SNP Links for Protein (Select 767916785) - SNP

Links from Protein

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Select item 14906477341.

rs1490647734 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:207575385 (GRCh38)
2:208440109 (GRCh37)
Canonical SPDI:: NC_000002.12:207575384:A:G
Gene:: CREB1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.207575385A>G, NC_000002.11:g.208440109A>G, NG_023299.1:g.50494A>G, NM_134442.5:c.661A>G, NM_134442.4:c.661A>G, NM_134442.3:c.661A>G, NM_004379.5:c.619A>G, NM_004379.4:c.619A>G, NM_004379.3:c.619A>G, NR_135473.2:n.842A>G, NR_135473.1:n.912A>G, NM_001320793.2:c.619A>G, NM_001320793.1:c.619A>G, NM_001371426.1:c.661A>G, NM_001371427.1:c.619A>G, NM_001371428.1:c.499A>G, NR_163946.1:n.800A>G, NR_163947.1:n.684A>G, XM_011510646.4:c.661A>G, XM_011510646.3:c.661A>G, XM_011510646.2:c.661A>G, XM_011510646.1:c.661A>G, XM_011510650.4:c.541A>G, XM_011510650.3:c.541A>G, XM_011510650.2:c.541A>G, XM_011510650.1:c.541A>G, XM_011510648.4:c.661A>G, XM_011510648.3:c.661A>G, XM_011510648.2:c.661A>G, XM_011510648.1:c.661A>G, XM_017003399.3:c.619A>G, XM_017003399.2:c.619A>G, XM_017003399.1:c.619A>G, XM_047443435.1:c.661A>G, XM_047443437.1:c.619A>G, XM_047443436.1:c.619A>G, XM_047443444.1:c.37A>G, XM_047443438.1:c.661A>G, XM_047443439.1:c.661A>G, XM_047443440.1:c.661A>G, XM_047443441.1:c.619A>G, NP_604391.1:p.Ile221Val, NP_004370.1:p.Ile207Val, NP_001307722.1:p.Ile207Val, NP_001358355.1:p.Ile221Val, NP_001358356.1:p.Ile207Val, NP_001358357.1:p.Ile167Val, XP_011508948.1:p.Ile221Val, XP_011508952.1:p.Ile181Val, XP_011508950.1:p.Ile221Val, XP_016858888.1:p.Ile207Val, XP_047299391.1:p.Ile221Val, XP_047299393.1:p.Ile207Val, XP_047299392.1:p.Ile207Val, XP_047299400.1:p.Ile13Val, XP_047299394.1:p.Ile221Val, XP_047299395.1:p.Ile221Val, XP_047299396.1:p.Ile221Val, XP_047299397.1:p.Ile207Val

Select item 14781049862.

rs1478104986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:207560226 (GRCh38)
2:208424950 (GRCh37)
Canonical SPDI:: NC_000002.12:207560225:G:T
Gene:: CREB1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.207560226G>T, NC_000002.11:g.208424950G>T, NG_023299.1:g.35335G>T, NM_134442.5:c.115G>T, NM_134442.4:c.115G>T, NM_134442.3:c.115G>T, NM_004379.5:c.115G>T, NM_004379.4:c.115G>T, NM_004379.3:c.115G>T, NR_135473.2:n.296G>T, NR_135473.1:n.366G>T, NM_001320793.2:c.115G>T, NM_001320793.1:c.115G>T, NM_001371426.1:c.115G>T, NM_001371427.1:c.115G>T, NM_001371428.1:c.-6G>T, NR_163946.1:n.296G>T, NR_163947.1:n.180G>T, XM_011510646.4:c.115G>T, XM_011510646.3:c.115G>T, XM_011510646.2:c.115G>T, XM_011510646.1:c.115G>T, XM_011510650.4:c.-6G>T, XM_011510650.3:c.-6G>T, XM_011510650.2:c.-6G>T, XM_011510650.1:c.-6G>T, XM_011510648.4:c.115G>T, XM_011510648.3:c.115G>T, XM_011510648.2:c.115G>T, XM_011510648.1:c.115G>T, XM_017003399.3:c.115G>T, XM_017003399.2:c.115G>T, XM_017003399.1:c.115G>T, XM_047443435.1:c.115G>T, XM_047443437.1:c.115G>T, XM_047443436.1:c.115G>T, XM_047443438.1:c.115G>T, XM_047443442.1:c.115G>T, XM_047443443.1:c.115G>T, XM_047443439.1:c.115G>T, XM_047443440.1:c.115G>T, XM_047443441.1:c.115G>T, NP_604391.1:p.Val39Leu, NP_004370.1:p.Val39Leu, NP_001307722.1:p.Val39Leu, NP_001358355.1:p.Val39Leu, NP_001358356.1:p.Val39Leu, XP_011508948.1:p.Val39Leu, XP_011508950.1:p.Val39Leu, XP_016858888.1:p.Val39Leu, XP_047299391.1:p.Val39Leu, XP_047299393.1:p.Val39Leu, XP_047299392.1:p.Val39Leu, XP_047299394.1:p.Val39Leu, XP_047299398.1:p.Val39Leu, XP_047299399.1:p.Val39Leu, XP_047299395.1:p.Val39Leu, XP_047299396.1:p.Val39Leu, XP_047299397.1:p.Val39Leu

Select item 14729576153.

rs1472957615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:207577509 (GRCh38)
2:208442233 (GRCh37)
Canonical SPDI:: NC_000002.12:207577508:C:T
Gene:: CREB1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.207577509C>T, NC_000002.11:g.208442233C>T, NG_023299.1:g.52618C>T, NM_134442.5:c.735C>T, NM_134442.4:c.735C>T, NM_134442.3:c.735C>T, NM_004379.5:c.693C>T, NM_004379.4:c.693C>T, NM_004379.3:c.693C>T, NR_135473.2:n.916C>T, NR_135473.1:n.986C>T, NM_001371426.1:c.735C>T, NM_001371427.1:c.693C>T, NM_001371428.1:c.573C>T, NR_163946.1:n.874C>T, NR_163947.1:n.758C>T, XM_011510646.4:c.735C>T, XM_011510646.3:c.735C>T, XM_011510646.2:c.735C>T, XM_011510646.1:c.735C>T, XM_011510650.4:c.615C>T, XM_011510650.3:c.615C>T, XM_011510650.2:c.615C>T, XM_011510650.1:c.615C>T, XM_011510648.4:c.735C>T, XM_011510648.3:c.735C>T, XM_011510648.2:c.735C>T, XM_011510648.1:c.735C>T, XM_017003401.3:c.45C>T, XM_017003401.2:c.45C>T, XM_017003401.1:c.45C>T, XM_017003399.3:c.693C>T, XM_017003399.2:c.693C>T, XM_017003399.1:c.693C>T, XM_047443435.1:c.735C>T, XM_047443437.1:c.693C>T, XM_047443436.1:c.693C>T, XM_047443444.1:c.111C>T, XM_047443438.1:c.735C>T, XM_047443440.1:c.*51C>T

Select item 14712557694.

rs1471255769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:207561152 (GRCh38)
2:208425876 (GRCh37)
Canonical SPDI:: NC_000002.12:207561151:G:A
Gene:: CREB1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.207561152G>A, NC_000002.11:g.208425876G>A, NG_023299.1:g.36261G>A, NM_134442.5:c.295G>A, NM_134442.4:c.295G>A, NM_134442.3:c.295G>A, NR_135473.2:n.476G>A, NR_135473.1:n.546G>A, NM_001371426.1:c.295G>A, XM_011510646.4:c.295G>A, XM_011510646.3:c.295G>A, XM_011510646.2:c.295G>A, XM_011510646.1:c.295G>A, XM_011510650.4:c.175G>A, XM_011510650.3:c.175G>A, XM_011510650.2:c.175G>A, XM_011510650.1:c.175G>A, XM_011510648.4:c.295G>A, XM_011510648.3:c.295G>A, XM_011510648.2:c.295G>A, XM_011510648.1:c.295G>A, XM_047443435.1:c.295G>A, XM_047443438.1:c.295G>A, XM_047443442.1:c.295G>A, XM_047443439.1:c.295G>A, XM_047443440.1:c.295G>A, NP_604391.1:p.Gly99Arg, NP_001358355.1:p.Gly99Arg, XP_011508948.1:p.Gly99Arg, XP_011508952.1:p.Gly59Arg, XP_011508950.1:p.Gly99Arg, XP_047299391.1:p.Gly99Arg, XP_047299394.1:p.Gly99Arg, XP_047299398.1:p.Gly99Arg, XP_047299395.1:p.Gly99Arg, XP_047299396.1:p.Gly99Arg

Select item 14688839935.

rs1468883993 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:207555704 (GRCh38)
2:208420428 (GRCh37)
Canonical SPDI:: NC_000002.12:207555703:A:G
Gene:: CREB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.207555704A>G, NC_000002.11:g.208420428A>G, NG_023299.1:g.30813A>G, NM_134442.5:c.69A>G, NM_134442.4:c.69A>G, NM_134442.3:c.69A>G, NM_004379.5:c.69A>G, NM_004379.4:c.69A>G, NM_004379.3:c.69A>G, NR_135473.2:n.250A>G, NR_135473.1:n.320A>G, NM_001320793.2:c.69A>G, NM_001320793.1:c.69A>G, NM_001371426.1:c.69A>G, NM_001371427.1:c.69A>G, NR_163946.1:n.250A>G, NR_163947.1:n.134A>G, XM_011510646.4:c.69A>G, XM_011510646.3:c.69A>G, XM_011510646.2:c.69A>G, XM_011510646.1:c.69A>G, XM_011510648.4:c.69A>G, XM_011510648.3:c.69A>G, XM_011510648.2:c.69A>G, XM_011510648.1:c.69A>G, XM_017003399.3:c.69A>G, XM_017003399.2:c.69A>G, XM_017003399.1:c.69A>G, XM_047443435.1:c.69A>G, XM_047443437.1:c.69A>G, XM_047443436.1:c.69A>G, XM_047443438.1:c.69A>G, XM_047443442.1:c.69A>G, XM_047443443.1:c.69A>G, XM_047443439.1:c.69A>G, XM_047443440.1:c.69A>G, XM_047443441.1:c.69A>G

Select item 14626078426.

rs1462607842 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:207567473 (GRCh38)
2:208432197 (GRCh37)
Canonical SPDI:: NC_000002.12:207567472:T:C
Gene:: CREB1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.001092/2 (Korea1K)
HGVS:: NC_000002.12:g.207567473T>C, NC_000002.11:g.208432197T>C, NG_023299.1:g.42582T>C, NM_134442.5:c.314T>C, NM_134442.4:c.314T>C, NM_134442.3:c.314T>C, NM_004379.5:c.272T>C, NM_004379.4:c.272T>C, NM_004379.3:c.272T>C, NR_135473.2:n.495T>C, NR_135473.1:n.565T>C, NM_001320793.2:c.272T>C, NM_001320793.1:c.272T>C, NM_001371426.1:c.314T>C, NM_001371427.1:c.272T>C, NM_001371428.1:c.152T>C, NR_163946.1:n.453T>C, NR_163947.1:n.337T>C, XM_011510646.4:c.314T>C, XM_011510646.3:c.314T>C, XM_011510646.2:c.314T>C, XM_011510646.1:c.314T>C, XM_011510650.4:c.194T>C, XM_011510650.3:c.194T>C, XM_011510650.2:c.194T>C, XM_011510650.1:c.194T>C, XM_011510648.4:c.314T>C, XM_011510648.3:c.314T>C, XM_011510648.2:c.314T>C, XM_011510648.1:c.314T>C, XM_017003399.3:c.272T>C, XM_017003399.2:c.272T>C, XM_017003399.1:c.272T>C, XM_047443435.1:c.314T>C, XM_047443437.1:c.272T>C, XM_047443436.1:c.272T>C, XM_047443444.1:c.-311T>C, XM_047443438.1:c.314T>C, XM_047443442.1:c.314T>C, XM_047443443.1:c.272T>C, XM_047443439.1:c.314T>C, XM_047443440.1:c.314T>C, XM_047443441.1:c.272T>C, NP_604391.1:p.Ile105Thr, NP_004370.1:p.Ile91Thr, NP_001307722.1:p.Ile91Thr, NP_001358355.1:p.Ile105Thr, NP_001358356.1:p.Ile91Thr, NP_001358357.1:p.Ile51Thr, XP_011508948.1:p.Ile105Thr, XP_011508952.1:p.Ile65Thr, XP_011508950.1:p.Ile105Thr, XP_016858888.1:p.Ile91Thr, XP_047299391.1:p.Ile105Thr, XP_047299393.1:p.Ile91Thr, XP_047299392.1:p.Ile91Thr, XP_047299394.1:p.Ile105Thr, XP_047299398.1:p.Ile105Thr, XP_047299399.1:p.Ile91Thr, XP_047299395.1:p.Ile105Thr, XP_047299396.1:p.Ile105Thr, XP_047299397.1:p.Ile91Thr

Select item 14591431197.

rs1459143119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:207570241 (GRCh38)
2:208434965 (GRCh37)
Canonical SPDI:: NC_000002.12:207570240:C:T
Gene:: CREB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.207570241C>T, NC_000002.11:g.208434965C>T, NG_023299.1:g.45350C>T, NM_134442.5:c.467C>T, NM_134442.4:c.467C>T, NM_134442.3:c.467C>T, NM_004379.5:c.425C>T, NM_004379.4:c.425C>T, NM_004379.3:c.425C>T, NR_135473.2:n.648C>T, NR_135473.1:n.718C>T, NM_001320793.2:c.425C>T, NM_001320793.1:c.425C>T, NM_001371426.1:c.467C>T, NM_001371427.1:c.425C>T, NM_001371428.1:c.305C>T, NR_163946.1:n.606C>T, NR_163947.1:n.490C>T, XM_011510646.4:c.467C>T, XM_011510646.3:c.467C>T, XM_011510646.2:c.467C>T, XM_011510646.1:c.467C>T, XM_011510650.4:c.347C>T, XM_011510650.3:c.347C>T, XM_011510650.2:c.347C>T, XM_011510650.1:c.347C>T, XM_011510648.4:c.467C>T, XM_011510648.3:c.467C>T, XM_011510648.2:c.467C>T, XM_011510648.1:c.467C>T, XM_017003399.3:c.425C>T, XM_017003399.2:c.425C>T, XM_017003399.1:c.425C>T, XM_047443435.1:c.467C>T, XM_047443437.1:c.425C>T, XM_047443436.1:c.425C>T, XM_047443444.1:c.-158C>T, XM_047443438.1:c.467C>T, XM_047443442.1:c.467C>T, XM_047443443.1:c.425C>T, XM_047443439.1:c.467C>T, XM_047443440.1:c.467C>T, XM_047443441.1:c.425C>T, NP_604391.1:p.Ser156Phe, NP_004370.1:p.Ser142Phe, NP_001307722.1:p.Ser142Phe, NP_001358355.1:p.Ser156Phe, NP_001358356.1:p.Ser142Phe, NP_001358357.1:p.Ser102Phe, XP_011508948.1:p.Ser156Phe, XP_011508952.1:p.Ser116Phe, XP_011508950.1:p.Ser156Phe, XP_016858888.1:p.Ser142Phe, XP_047299391.1:p.Ser156Phe, XP_047299393.1:p.Ser142Phe, XP_047299392.1:p.Ser142Phe, XP_047299394.1:p.Ser156Phe, XP_047299398.1:p.Ser156Phe, XP_047299399.1:p.Ser142Phe, XP_047299395.1:p.Ser156Phe, XP_047299396.1:p.Ser156Phe, XP_047299397.1:p.Ser142Phe

Select item 14511578648.

rs1451157864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:207575396 (GRCh38)
2:208440120 (GRCh37)
Canonical SPDI:: NC_000002.12:207575395:T:C
Gene:: CREB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.207575396T>C, NC_000002.11:g.208440120T>C, NG_023299.1:g.50505T>C, NM_134442.5:c.672T>C, NM_134442.4:c.672T>C, NM_134442.3:c.672T>C, NM_004379.5:c.630T>C, NM_004379.4:c.630T>C, NM_004379.3:c.630T>C, NR_135473.2:n.853T>C, NR_135473.1:n.923T>C, NM_001320793.2:c.630T>C, NM_001320793.1:c.630T>C, NM_001371426.1:c.672T>C, NM_001371427.1:c.630T>C, NM_001371428.1:c.510T>C, NR_163946.1:n.811T>C, NR_163947.1:n.695T>C, XM_011510646.4:c.672T>C, XM_011510646.3:c.672T>C, XM_011510646.2:c.672T>C, XM_011510646.1:c.672T>C, XM_011510650.4:c.552T>C, XM_011510650.3:c.552T>C, XM_011510650.2:c.552T>C, XM_011510650.1:c.552T>C, XM_011510648.4:c.672T>C, XM_011510648.3:c.672T>C, XM_011510648.2:c.672T>C, XM_011510648.1:c.672T>C, XM_017003399.3:c.630T>C, XM_017003399.2:c.630T>C, XM_017003399.1:c.630T>C, XM_047443435.1:c.672T>C, XM_047443437.1:c.630T>C, XM_047443436.1:c.630T>C, XM_047443444.1:c.48T>C, XM_047443438.1:c.672T>C, XM_047443439.1:c.672T>C, XM_047443440.1:c.672T>C, XM_047443441.1:c.630T>C

Select item 14450930329.

rs1445093032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:207560252 (GRCh38)
2:208424976 (GRCh37)
Canonical SPDI:: NC_000002.12:207560251:A:G
Gene:: CREB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.207560252A>G, NC_000002.11:g.208424976A>G, NG_023299.1:g.35361A>G, NM_134442.5:c.141A>G, NM_134442.4:c.141A>G, NM_134442.3:c.141A>G, NM_004379.5:c.141A>G, NM_004379.4:c.141A>G, NM_004379.3:c.141A>G, NR_135473.2:n.322A>G, NR_135473.1:n.392A>G, NM_001320793.2:c.141A>G, NM_001320793.1:c.141A>G, NM_001371426.1:c.141A>G, NM_001371427.1:c.141A>G, NM_001371428.1:c.21A>G, NR_163946.1:n.322A>G, NR_163947.1:n.206A>G, XM_011510646.4:c.141A>G, XM_011510646.3:c.141A>G, XM_011510646.2:c.141A>G, XM_011510646.1:c.141A>G, XM_011510650.4:c.21A>G, XM_011510650.3:c.21A>G, XM_011510650.2:c.21A>G, XM_011510650.1:c.21A>G, XM_011510648.4:c.141A>G, XM_011510648.3:c.141A>G, XM_011510648.2:c.141A>G, XM_011510648.1:c.141A>G, XM_017003399.3:c.141A>G, XM_017003399.2:c.141A>G, XM_017003399.1:c.141A>G, XM_047443435.1:c.141A>G, XM_047443437.1:c.141A>G, XM_047443436.1:c.141A>G, XM_047443438.1:c.141A>G, XM_047443442.1:c.141A>G, XM_047443443.1:c.141A>G, XM_047443439.1:c.141A>G, XM_047443440.1:c.141A>G, XM_047443441.1:c.141A>G

Select item 144446885110.

rs1444468851 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:207570206 (GRCh38)
2:208434930 (GRCh37)
Canonical SPDI:: NC_000002.12:207570205:T:C,NC_000002.12:207570205:T:G
Gene:: CREB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.207570206T>C, NC_000002.12:g.207570206T>G, NC_000002.11:g.208434930T>C, NC_000002.11:g.208434930T>G, NG_023299.1:g.45315T>C, NG_023299.1:g.45315T>G, NM_134442.5:c.432T>C, NM_134442.5:c.432T>G, NM_134442.4:c.432T>C, NM_134442.4:c.432T>G, NM_134442.3:c.432T>C, NM_134442.3:c.432T>G, NM_004379.5:c.390T>C, NM_004379.5:c.390T>G, NM_004379.4:c.390T>C, NM_004379.4:c.390T>G, NM_004379.3:c.390T>C, NM_004379.3:c.390T>G, NR_135473.2:n.613T>C, NR_135473.2:n.613T>G, NR_135473.1:n.683T>C, NR_135473.1:n.683T>G, NM_001320793.2:c.390T>C, NM_001320793.2:c.390T>G, NM_001320793.1:c.390T>C, NM_001320793.1:c.390T>G, NM_001371426.1:c.432T>C, NM_001371426.1:c.432T>G, NM_001371427.1:c.390T>C, NM_001371427.1:c.390T>G, NM_001371428.1:c.270T>C, NM_001371428.1:c.270T>G, NR_163946.1:n.571T>C, NR_163946.1:n.571T>G, NR_163947.1:n.455T>C, NR_163947.1:n.455T>G, XM_011510646.4:c.432T>C, XM_011510646.4:c.432T>G, XM_011510646.3:c.432T>C, XM_011510646.3:c.432T>G, XM_011510646.2:c.432T>C, XM_011510646.2:c.432T>G, XM_011510646.1:c.432T>C, XM_011510646.1:c.432T>G, XM_011510650.4:c.312T>C, XM_011510650.4:c.312T>G, XM_011510650.3:c.312T>C, XM_011510650.3:c.312T>G, XM_011510650.2:c.312T>C, XM_011510650.2:c.312T>G, XM_011510650.1:c.312T>C, XM_011510650.1:c.312T>G, XM_011510648.4:c.432T>C, XM_011510648.4:c.432T>G, XM_011510648.3:c.432T>C, XM_011510648.3:c.432T>G, XM_011510648.2:c.432T>C, XM_011510648.2:c.432T>G, XM_011510648.1:c.432T>C, XM_011510648.1:c.432T>G, XM_017003399.3:c.390T>C, XM_017003399.3:c.390T>G, XM_017003399.2:c.390T>C, XM_017003399.2:c.390T>G, XM_017003399.1:c.390T>C, XM_017003399.1:c.390T>G, XM_047443435.1:c.432T>C, XM_047443435.1:c.432T>G, XM_047443437.1:c.390T>C, XM_047443437.1:c.390T>G, XM_047443436.1:c.390T>C, XM_047443436.1:c.390T>G, XM_047443444.1:c.-193T>C, XM_047443444.1:c.-193T>G, XM_047443438.1:c.432T>C, XM_047443438.1:c.432T>G, XM_047443442.1:c.432T>C, XM_047443442.1:c.432T>G, XM_047443443.1:c.390T>C, XM_047443443.1:c.390T>G, XM_047443439.1:c.432T>C, XM_047443439.1:c.432T>G, XM_047443440.1:c.432T>C, XM_047443440.1:c.432T>G, XM_047443441.1:c.390T>C, XM_047443441.1:c.390T>G, NP_604391.1:p.Asp144Glu, NP_004370.1:p.Asp130Glu, NP_001307722.1:p.Asp130Glu, NP_001358355.1:p.Asp144Glu, NP_001358356.1:p.Asp130Glu, NP_001358357.1:p.Asp90Glu, XP_011508948.1:p.Asp144Glu, XP_011508952.1:p.Asp104Glu, XP_011508950.1:p.Asp144Glu, XP_016858888.1:p.Asp130Glu, XP_047299391.1:p.Asp144Glu, XP_047299393.1:p.Asp130Glu, XP_047299392.1:p.Asp130Glu, XP_047299394.1:p.Asp144Glu, XP_047299398.1:p.Asp144Glu, XP_047299399.1:p.Asp130Glu, XP_047299395.1:p.Asp144Glu, XP_047299396.1:p.Asp144Glu, XP_047299397.1:p.Asp130Glu

Select item 144260698511.

rs1442606985 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:207560362 (GRCh38)
2:208425086 (GRCh37)
Canonical SPDI:: NC_000002.12:207560361:A:C
Gene:: CREB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.207560362A>C, NC_000002.11:g.208425086A>C, NG_023299.1:g.35471A>C, NM_134442.5:c.251A>C, NM_134442.4:c.251A>C, NM_134442.3:c.251A>C, NM_004379.5:c.251A>C, NM_004379.4:c.251A>C, NM_004379.3:c.251A>C, NR_135473.2:n.432A>C, NR_135473.1:n.502A>C, NM_001320793.2:c.251A>C, NM_001320793.1:c.251A>C, NM_001371426.1:c.251A>C, NM_001371427.1:c.251A>C, NM_001371428.1:c.131A>C, NR_163946.1:n.432A>C, NR_163947.1:n.316A>C, XM_011510646.4:c.251A>C, XM_011510646.3:c.251A>C, XM_011510646.2:c.251A>C, XM_011510646.1:c.251A>C, XM_011510650.4:c.131A>C, XM_011510650.3:c.131A>C, XM_011510650.2:c.131A>C, XM_011510650.1:c.131A>C, XM_011510648.4:c.251A>C, XM_011510648.3:c.251A>C, XM_011510648.2:c.251A>C, XM_011510648.1:c.251A>C, XM_017003399.3:c.251A>C, XM_017003399.2:c.251A>C, XM_017003399.1:c.251A>C, XM_047443435.1:c.251A>C, XM_047443437.1:c.251A>C, XM_047443436.1:c.251A>C, XM_047443444.1:c.-349A>C, XM_047443438.1:c.251A>C, XM_047443442.1:c.251A>C, XM_047443443.1:c.251A>C, XM_047443439.1:c.251A>C, XM_047443440.1:c.251A>C, XM_047443441.1:c.251A>C, NP_604391.1:p.Gln84Pro, NP_004370.1:p.Gln84Pro, NP_001307722.1:p.Gln84Pro, NP_001358355.1:p.Gln84Pro, NP_001358356.1:p.Gln84Pro, NP_001358357.1:p.Gln44Pro, XP_011508948.1:p.Gln84Pro, XP_011508952.1:p.Gln44Pro, XP_011508950.1:p.Gln84Pro, XP_016858888.1:p.Gln84Pro, XP_047299391.1:p.Gln84Pro, XP_047299393.1:p.Gln84Pro, XP_047299392.1:p.Gln84Pro, XP_047299394.1:p.Gln84Pro, XP_047299398.1:p.Gln84Pro, XP_047299399.1:p.Gln84Pro, XP_047299395.1:p.Gln84Pro, XP_047299396.1:p.Gln84Pro, XP_047299397.1:p.Gln84Pro

Select item 144233494112.

rs1442334941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:207567530 (GRCh38)
2:208432254 (GRCh37)
Canonical SPDI:: NC_000002.12:207567529:G:A
Gene:: CREB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
HGVS:: NC_000002.12:g.207567530G>A, NC_000002.11:g.208432254G>A, NG_023299.1:g.42639G>A, NM_134442.5:c.371G>A, NM_134442.4:c.371G>A, NM_134442.3:c.371G>A, NM_004379.5:c.329G>A, NM_004379.4:c.329G>A, NM_004379.3:c.329G>A, NR_135473.2:n.552G>A, NR_135473.1:n.622G>A, NM_001320793.2:c.329G>A, NM_001320793.1:c.329G>A, NM_001371426.1:c.371G>A, NM_001371427.1:c.329G>A, NM_001371428.1:c.209G>A, NR_163946.1:n.510G>A, NR_163947.1:n.394G>A, XM_011510646.4:c.371G>A, XM_011510646.3:c.371G>A, XM_011510646.2:c.371G>A, XM_011510646.1:c.371G>A, XM_011510650.4:c.251G>A, XM_011510650.3:c.251G>A, XM_011510650.2:c.251G>A, XM_011510650.1:c.251G>A, XM_011510648.4:c.371G>A, XM_011510648.3:c.371G>A, XM_011510648.2:c.371G>A, XM_011510648.1:c.371G>A, XM_017003399.3:c.329G>A, XM_017003399.2:c.329G>A, XM_017003399.1:c.329G>A, XM_047443435.1:c.371G>A, XM_047443437.1:c.329G>A, XM_047443436.1:c.329G>A, XM_047443444.1:c.-254G>A, XM_047443438.1:c.371G>A, XM_047443442.1:c.371G>A, XM_047443443.1:c.329G>A, XM_047443439.1:c.371G>A, XM_047443440.1:c.371G>A, XM_047443441.1:c.329G>A, NP_604391.1:p.Arg124Gln, NP_004370.1:p.Arg110Gln, NP_001307722.1:p.Arg110Gln, NP_001358355.1:p.Arg124Gln, NP_001358356.1:p.Arg110Gln, NP_001358357.1:p.Arg70Gln, XP_011508948.1:p.Arg124Gln, XP_011508952.1:p.Arg84Gln, XP_011508950.1:p.Arg124Gln, XP_016858888.1:p.Arg110Gln, XP_047299391.1:p.Arg124Gln, XP_047299393.1:p.Arg110Gln, XP_047299392.1:p.Arg110Gln, XP_047299394.1:p.Arg124Gln, XP_047299398.1:p.Arg124Gln, XP_047299399.1:p.Arg110Gln, XP_047299395.1:p.Arg124Gln, XP_047299396.1:p.Arg124Gln, XP_047299397.1:p.Arg110Gln

Select item 144106939913.

rs1441069399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:207589180 (GRCh38)
2:208453904 (GRCh37)
Canonical SPDI:: NC_000002.12:207589179:C:T
Gene:: CREB1 (Varview), METTL21A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.207589180C>T, NC_000002.11:g.208453904C>T, NG_023299.1:g.64289C>T, XM_011510646.4:c.899C>T, XM_011510646.3:c.899C>T, XM_011510646.2:c.899C>T, XM_011510646.1:c.899C>T, XM_047443437.1:c.857C>T, XM_047443436.1:c.857C>T, XP_011508948.1:p.Ala300Val, XP_047299393.1:p.Ala286Val, XP_047299392.1:p.Ala286Val

Select item 144046519214.

rs1440465192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:207561158 (GRCh38)
2:208425882 (GRCh37)
Canonical SPDI:: NC_000002.12:207561157:C:T
Gene:: CREB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.207561158C>T, NC_000002.11:g.208425882C>T, NG_023299.1:g.36267C>T, NM_134442.5:c.301C>T, NM_134442.4:c.301C>T, NM_134442.3:c.301C>T, NR_135473.2:n.482C>T, NR_135473.1:n.552C>T, NM_001371426.1:c.301C>T, XM_011510646.4:c.301C>T, XM_011510646.3:c.301C>T, XM_011510646.2:c.301C>T, XM_011510646.1:c.301C>T, XM_011510650.4:c.181C>T, XM_011510650.3:c.181C>T, XM_011510650.2:c.181C>T, XM_011510650.1:c.181C>T, XM_011510648.4:c.301C>T, XM_011510648.3:c.301C>T, XM_011510648.2:c.301C>T, XM_011510648.1:c.301C>T, XM_047443435.1:c.301C>T, XM_047443438.1:c.301C>T, XM_047443442.1:c.301C>T, XM_047443439.1:c.301C>T, XM_047443440.1:c.301C>T, NP_604391.1:p.Gln101Ter, NP_001358355.1:p.Gln101Ter, XP_011508948.1:p.Gln101Ter, XP_011508952.1:p.Gln61Ter, XP_011508950.1:p.Gln101Ter, XP_047299391.1:p.Gln101Ter, XP_047299394.1:p.Gln101Ter, XP_047299398.1:p.Gln101Ter, XP_047299395.1:p.Gln101Ter, XP_047299396.1:p.Gln101Ter

Select item 143604624615.

rs1436046246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:207575287 (GRCh38)
2:208440011 (GRCh37)
Canonical SPDI:: NC_000002.12:207575286:G:A
Gene:: CREB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.207575287G>A, NC_000002.11:g.208440011G>A, NG_023299.1:g.50396G>A, NM_134442.5:c.563G>A, NM_134442.4:c.563G>A, NM_134442.3:c.563G>A, NM_004379.5:c.521G>A, NM_004379.4:c.521G>A, NM_004379.3:c.521G>A, NR_135473.2:n.744G>A, NR_135473.1:n.814G>A, NM_001320793.2:c.521G>A, NM_001320793.1:c.521G>A, NM_001371426.1:c.563G>A, NM_001371427.1:c.521G>A, NM_001371428.1:c.401G>A, NR_163946.1:n.702G>A, NR_163947.1:n.586G>A, XM_011510646.4:c.563G>A, XM_011510646.3:c.563G>A, XM_011510646.2:c.563G>A, XM_011510646.1:c.563G>A, XM_011510650.4:c.443G>A, XM_011510650.3:c.443G>A, XM_011510650.2:c.443G>A, XM_011510650.1:c.443G>A, XM_011510648.4:c.563G>A, XM_011510648.3:c.563G>A, XM_011510648.2:c.563G>A, XM_011510648.1:c.563G>A, XM_017003399.3:c.521G>A, XM_017003399.2:c.521G>A, XM_017003399.1:c.521G>A, XM_047443435.1:c.563G>A, XM_047443437.1:c.521G>A, XM_047443436.1:c.521G>A, XM_047443444.1:c.-62G>A, XM_047443438.1:c.563G>A, XM_047443439.1:c.563G>A, XM_047443440.1:c.563G>A, XM_047443441.1:c.521G>A, NP_604391.1:p.Gly188Glu, NP_004370.1:p.Gly174Glu, NP_001307722.1:p.Gly174Glu, NP_001358355.1:p.Gly188Glu, NP_001358356.1:p.Gly174Glu, NP_001358357.1:p.Gly134Glu, XP_011508948.1:p.Gly188Glu, XP_011508952.1:p.Gly148Glu, XP_011508950.1:p.Gly188Glu, XP_016858888.1:p.Gly174Glu, XP_047299391.1:p.Gly188Glu, XP_047299393.1:p.Gly174Glu, XP_047299392.1:p.Gly174Glu, XP_047299394.1:p.Gly188Glu, XP_047299395.1:p.Gly188Glu, XP_047299396.1:p.Gly188Glu, XP_047299397.1:p.Gly174Glu

Select item 143445511816.

rs1434455118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:207575316 (GRCh38)
2:208440040 (GRCh37)
Canonical SPDI:: NC_000002.12:207575315:A:T
Gene:: CREB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.207575316A>T, NC_000002.11:g.208440040A>T, NG_023299.1:g.50425A>T, NM_134442.5:c.592A>T, NM_134442.4:c.592A>T, NM_134442.3:c.592A>T, NM_004379.5:c.550A>T, NM_004379.4:c.550A>T, NM_004379.3:c.550A>T, NR_135473.2:n.773A>T, NR_135473.1:n.843A>T, NM_001320793.2:c.550A>T, NM_001320793.1:c.550A>T, NM_001371426.1:c.592A>T, NM_001371427.1:c.550A>T, NM_001371428.1:c.430A>T, NR_163946.1:n.731A>T, NR_163947.1:n.615A>T, XM_011510646.4:c.592A>T, XM_011510646.3:c.592A>T, XM_011510646.2:c.592A>T, XM_011510646.1:c.592A>T, XM_011510650.4:c.472A>T, XM_011510650.3:c.472A>T, XM_011510650.2:c.472A>T, XM_011510650.1:c.472A>T, XM_011510648.4:c.592A>T, XM_011510648.3:c.592A>T, XM_011510648.2:c.592A>T, XM_011510648.1:c.592A>T, XM_017003399.3:c.550A>T, XM_017003399.2:c.550A>T, XM_017003399.1:c.550A>T, XM_047443435.1:c.592A>T, XM_047443437.1:c.550A>T, XM_047443436.1:c.550A>T, XM_047443444.1:c.-33A>T, XM_047443438.1:c.592A>T, XM_047443439.1:c.592A>T, XM_047443440.1:c.592A>T, XM_047443441.1:c.550A>T, NP_604391.1:p.Thr198Ser, NP_004370.1:p.Thr184Ser, NP_001307722.1:p.Thr184Ser, NP_001358355.1:p.Thr198Ser, NP_001358356.1:p.Thr184Ser, NP_001358357.1:p.Thr144Ser, XP_011508948.1:p.Thr198Ser, XP_011508952.1:p.Thr158Ser, XP_011508950.1:p.Thr198Ser, XP_016858888.1:p.Thr184Ser, XP_047299391.1:p.Thr198Ser, XP_047299393.1:p.Thr184Ser, XP_047299392.1:p.Thr184Ser, XP_047299394.1:p.Thr198Ser, XP_047299395.1:p.Thr198Ser, XP_047299396.1:p.Thr198Ser, XP_047299397.1:p.Thr184Ser

Select item 143372605317.

rs1433726053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:207575276 (GRCh38)
2:208440000 (GRCh37)
Canonical SPDI:: NC_000002.12:207575275:C:T
Gene:: CREB1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.207575276C>T, NC_000002.11:g.208440000C>T, NG_023299.1:g.50385C>T, NM_134442.5:c.552C>T, NM_134442.4:c.552C>T, NM_134442.3:c.552C>T, NM_004379.5:c.510C>T, NM_004379.4:c.510C>T, NM_004379.3:c.510C>T, NR_135473.2:n.733C>T, NR_135473.1:n.803C>T, NM_001320793.2:c.510C>T, NM_001320793.1:c.510C>T, NM_001371426.1:c.552C>T, NM_001371427.1:c.510C>T, NM_001371428.1:c.390C>T, NR_163946.1:n.691C>T, NR_163947.1:n.575C>T, XM_011510646.4:c.552C>T, XM_011510646.3:c.552C>T, XM_011510646.2:c.552C>T, XM_011510646.1:c.552C>T, XM_011510650.4:c.432C>T, XM_011510650.3:c.432C>T, XM_011510650.2:c.432C>T, XM_011510650.1:c.432C>T, XM_011510648.4:c.552C>T, XM_011510648.3:c.552C>T, XM_011510648.2:c.552C>T, XM_011510648.1:c.552C>T, XM_017003399.3:c.510C>T, XM_017003399.2:c.510C>T, XM_017003399.1:c.510C>T, XM_047443435.1:c.552C>T, XM_047443437.1:c.510C>T, XM_047443436.1:c.510C>T, XM_047443444.1:c.-73C>T, XM_047443438.1:c.552C>T, XM_047443439.1:c.552C>T, XM_047443440.1:c.552C>T, XM_047443441.1:c.510C>T

Select item 142752338818.

rs1427523388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:207577629 (GRCh38)
2:208442353 (GRCh37)
Canonical SPDI:: NC_000002.12:207577628:G:A
Gene:: CREB1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.207577629G>A, NC_000002.11:g.208442353G>A, NG_023299.1:g.52738G>A, NM_134442.5:c.855G>A, NM_134442.4:c.855G>A, NM_134442.3:c.855G>A, NM_004379.5:c.813G>A, NM_004379.4:c.813G>A, NM_004379.3:c.813G>A, NR_135473.2:n.1036G>A, NR_135473.1:n.1106G>A, NM_001371426.1:c.855G>A, NM_001371427.1:c.813G>A, NM_001371428.1:c.693G>A, NR_163946.1:n.994G>A, NR_163947.1:n.878G>A, XM_011510646.4:c.855G>A, XM_011510646.3:c.855G>A, XM_011510646.2:c.855G>A, XM_011510646.1:c.855G>A, XM_011510650.4:c.735G>A, XM_011510650.3:c.735G>A, XM_011510650.2:c.735G>A, XM_011510650.1:c.735G>A, XM_011510648.4:c.855G>A, XM_011510648.3:c.855G>A, XM_011510648.2:c.855G>A, XM_011510648.1:c.855G>A, XM_017003401.3:c.165G>A, XM_017003401.2:c.165G>A, XM_017003401.1:c.165G>A, XM_017003399.3:c.813G>A, XM_017003399.2:c.813G>A, XM_017003399.1:c.813G>A, XM_047443435.1:c.855G>A, XM_047443437.1:c.813G>A, XM_047443436.1:c.813G>A, XM_047443444.1:c.231G>A, XM_047443438.1:c.855G>A

Select item 142365881319.

rs1423658813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:207577521 (GRCh38)
2:208442245 (GRCh37)
Canonical SPDI:: NC_000002.12:207577520:A:G,NC_000002.12:207577520:A:T
Gene:: CREB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.207577521A>G, NC_000002.12:g.207577521A>T, NC_000002.11:g.208442245A>G, NC_000002.11:g.208442245A>T, NG_023299.1:g.52630A>G, NG_023299.1:g.52630A>T, NM_134442.5:c.747A>G, NM_134442.5:c.747A>T, NM_134442.4:c.747A>G, NM_134442.4:c.747A>T, NM_134442.3:c.747A>G, NM_134442.3:c.747A>T, NM_004379.5:c.705A>G, NM_004379.5:c.705A>T, NM_004379.4:c.705A>G, NM_004379.4:c.705A>T, NM_004379.3:c.705A>G, NM_004379.3:c.705A>T, NR_135473.2:n.928A>G, NR_135473.2:n.928A>T, NR_135473.1:n.998A>G, NR_135473.1:n.998A>T, NM_001371426.1:c.747A>G, NM_001371426.1:c.747A>T, NM_001371427.1:c.705A>G, NM_001371427.1:c.705A>T, NM_001371428.1:c.585A>G, NM_001371428.1:c.585A>T, NR_163946.1:n.886A>G, NR_163946.1:n.886A>T, NR_163947.1:n.770A>G, NR_163947.1:n.770A>T, XM_011510646.4:c.747A>G, XM_011510646.4:c.747A>T, XM_011510646.3:c.747A>G, XM_011510646.3:c.747A>T, XM_011510646.2:c.747A>G, XM_011510646.2:c.747A>T, XM_011510646.1:c.747A>G, XM_011510646.1:c.747A>T, XM_011510650.4:c.627A>G, XM_011510650.4:c.627A>T, XM_011510650.3:c.627A>G, XM_011510650.3:c.627A>T, XM_011510650.2:c.627A>G, XM_011510650.2:c.627A>T, XM_011510650.1:c.627A>G, XM_011510650.1:c.627A>T, XM_011510648.4:c.747A>G, XM_011510648.4:c.747A>T, XM_011510648.3:c.747A>G, XM_011510648.3:c.747A>T, XM_011510648.2:c.747A>G, XM_011510648.2:c.747A>T, XM_011510648.1:c.747A>G, XM_011510648.1:c.747A>T, XM_017003401.3:c.57A>G, XM_017003401.3:c.57A>T, XM_017003401.2:c.57A>G, XM_017003401.2:c.57A>T, XM_017003401.1:c.57A>G, XM_017003401.1:c.57A>T, XM_017003399.3:c.705A>G, XM_017003399.3:c.705A>T, XM_017003399.2:c.705A>G, XM_017003399.2:c.705A>T, XM_017003399.1:c.705A>G, XM_017003399.1:c.705A>T, XM_047443435.1:c.747A>G, XM_047443435.1:c.747A>T, XM_047443437.1:c.705A>G, XM_047443437.1:c.705A>T, XM_047443436.1:c.705A>G, XM_047443436.1:c.705A>T, XM_047443444.1:c.123A>G, XM_047443444.1:c.123A>T, XM_047443438.1:c.747A>G, XM_047443438.1:c.747A>T, XM_047443440.1:c.*63A>G, XM_047443440.1:c.*63A>T

Select item 141650737820.

rs1416507378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:207589241 (GRCh38)
2:208453965 (GRCh37)
Canonical SPDI:: NC_000002.12:207589240:G:A,NC_000002.12:207589240:G:T
Gene:: CREB1 (Varview), METTL21A (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.207589241G>A, NC_000002.12:g.207589241G>T, NC_000002.11:g.208453965G>A, NC_000002.11:g.208453965G>T, NG_023299.1:g.64350G>A, NG_023299.1:g.64350G>T, XM_011510646.4:c.960G>A, XM_011510646.4:c.960G>T, XM_011510646.3:c.960G>A, XM_011510646.3:c.960G>T, XM_011510646.2:c.960G>A, XM_011510646.2:c.960G>T, XM_011510646.1:c.960G>A, XM_011510646.1:c.960G>T, XM_047443437.1:c.918G>A, XM_047443437.1:c.918G>T, XM_047443436.1:c.918G>A, XM_047443436.1:c.918G>T, XP_011508948.1:p.Glu320Asp, XP_047299393.1:p.Glu306Asp, XP_047299392.1:p.Glu306Asp

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