SNP Links for Protein (Select 767980547) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:73508132 (GRCh38)
14:73974836 (GRCh37)
Canonical SPDI:: NC_000014.9:73508131:A:G
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,splice_donor_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73508132A>G, NC_000014.8:g.73974836A>G, XM_011536761.4:c.1883T>C, XM_011536761.3:c.1883T>C, XM_011536761.2:c.1883T>C, XM_011536761.1:c.1883T>C, XP_011535063.1:p.Val628Ala

Select item 147403072411.

rs1474030724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:73514120 (GRCh38)
14:73980824 (GRCh37)
Canonical SPDI:: NC_000014.9:73514119:T:A
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73514120T>A, NC_000014.8:g.73980824T>A, XM_011536761.4:c.1325A>T, XM_011536761.3:c.1325A>T, XM_011536761.2:c.1325A>T, XM_011536761.1:c.1325A>T, NM_203309.2:c.1325A>T, XR_002957552.2:n.1325A>T, XR_002957552.1:n.1896A>T, XM_024449582.2:c.1325A>T, XM_024449582.1:c.1325A>T, NM_001220484.1:c.1325A>T, XM_047431370.1:c.1325A>T, XM_047431371.1:c.56A>T, XP_011535063.1:p.Lys442Met, NP_976054.2:p.Lys442Met, XP_024305350.1:p.Lys442Met, NP_001207413.1:p.Lys442Met, XP_047287326.1:p.Lys442Met, XP_047287327.1:p.Lys19Met

Select item 147349482212.

rs1473494822 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:73508220 (GRCh38)
14:73974924 (GRCh37)
Canonical SPDI:: NC_000014.9:73508219:T:C
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73508220T>C, NC_000014.8:g.73974924T>C, XM_011536761.4:c.1795A>G, XM_011536761.3:c.1795A>G, XM_011536761.2:c.1795A>G, XM_011536761.1:c.1795A>G, NM_203309.2:c.1795A>G, XR_002957552.2:n.1795A>G, XR_002957552.1:n.2366A>G, XM_024449582.2:c.1795A>G, XM_024449582.1:c.1795A>G, NM_001220484.1:c.1795A>G, XM_047431370.1:c.1795A>G, XM_047431371.1:c.526A>G, XP_011535063.1:p.Arg599Gly, NP_976054.2:p.Arg599Gly, XP_024305350.1:p.Arg599Gly, NP_001207413.1:p.Arg599Gly, XP_047287326.1:p.Arg599Gly, XP_047287327.1:p.Arg176Gly

Select item 147197819813.

rs1471978198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:73508250 (GRCh38)
14:73974954 (GRCh37)
Canonical SPDI:: NC_000014.9:73508249:C:T
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.73508250C>T, NC_000014.8:g.73974954C>T, XM_011536761.4:c.1765G>A, XM_011536761.3:c.1765G>A, XM_011536761.2:c.1765G>A, XM_011536761.1:c.1765G>A, NM_203309.2:c.1765G>A, XR_002957552.2:n.1765G>A, XR_002957552.1:n.2336G>A, XM_024449582.2:c.1765G>A, XM_024449582.1:c.1765G>A, NM_001220484.1:c.1765G>A, XM_047431370.1:c.1765G>A, XM_047431371.1:c.496G>A, XP_011535063.1:p.Glu589Lys, NP_976054.2:p.Glu589Lys, XP_024305350.1:p.Glu589Lys, NP_001207413.1:p.Glu589Lys, XP_047287326.1:p.Glu589Lys, XP_047287327.1:p.Glu166Lys

Select item 146881700014.

rs1468817000 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:73523051 (GRCh38)
14:73989755 (GRCh37)
Canonical SPDI:: NC_000014.9:73523050:C:G
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.73523051C>G, NC_000014.8:g.73989755C>G, XM_011536761.4:c.102G>C, XM_011536761.3:c.102G>C, XM_011536761.2:c.102G>C, XM_011536761.1:c.102G>C, NM_203309.2:c.102G>C, XR_002957552.2:n.102G>C, XR_002957552.1:n.673G>C, XM_024449582.2:c.102G>C, XM_024449582.1:c.102G>C, NM_001220484.1:c.102G>C, XM_047431370.1:c.102G>C, XM_047431371.1:c.-980G>C, XP_011535063.1:p.Leu34Phe, NP_976054.2:p.Leu34Phe, XP_024305350.1:p.Leu34Phe, NP_001207413.1:p.Leu34Phe, XP_047287326.1:p.Leu34Phe

Select item 146711582415.

rs1467115824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:73508123 (GRCh38)
14:73974827 (GRCh37)
Canonical SPDI:: NC_000014.9:73508122:T:C,NC_000014.9:73508122:T:G
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73508123T>C, NC_000014.9:g.73508123T>G, NC_000014.8:g.73974827T>C, NC_000014.8:g.73974827T>G, XM_011536761.4:c.1892A>G, XM_011536761.4:c.1892A>C, XM_011536761.3:c.1892A>G, XM_011536761.3:c.1892A>C, XM_011536761.2:c.1892A>G, XM_011536761.2:c.1892A>C, XM_011536761.1:c.1892A>G, XM_011536761.1:c.1892A>C, XP_011535063.1:p.His631Arg, XP_011535063.1:p.His631Pro

Select item 146470924616.

rs1464709246 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:73512092 (GRCh38)
14:73978796 (GRCh37)
Canonical SPDI:: NC_000014.9:73512091:T:C
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.73512092T>C, NC_000014.8:g.73978796T>C, XM_011536761.4:c.1472A>G, XM_011536761.3:c.1472A>G, XM_011536761.2:c.1472A>G, XM_011536761.1:c.1472A>G, NM_203309.2:c.1472A>G, XR_002957552.2:n.1472A>G, XR_002957552.1:n.2043A>G, XM_024449582.2:c.1472A>G, XM_024449582.1:c.1472A>G, NM_001220484.1:c.1472A>G, XM_047431370.1:c.1472A>G, XM_047431371.1:c.203A>G, XP_011535063.1:p.His491Arg, NP_976054.2:p.His491Arg, XP_024305350.1:p.His491Arg, NP_001207413.1:p.His491Arg, XP_047287326.1:p.His491Arg, XP_047287327.1:p.His68Arg

Select item 146263190517.

rs1462631905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:73522802 (GRCh38)
14:73989506 (GRCh37)
Canonical SPDI:: NC_000014.9:73522801:A:C
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.73522802A>C, NC_000014.8:g.73989506A>C, XM_011536761.4:c.351T>G, XM_011536761.3:c.351T>G, XM_011536761.2:c.351T>G, XM_011536761.1:c.351T>G, NM_203309.2:c.351T>G, XR_002957552.2:n.351T>G, XR_002957552.1:n.922T>G, XM_024449582.2:c.351T>G, XM_024449582.1:c.351T>G, NM_001220484.1:c.351T>G, XM_047431370.1:c.351T>G, XM_047431371.1:c.-731T>G

Select item 146068292318.

rs1460682923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:73522598 (GRCh38)
14:73989302 (GRCh37)
Canonical SPDI:: NC_000014.9:73522597:C:T
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73522598C>T, NC_000014.8:g.73989302C>T, XM_011536761.4:c.555G>A, XM_011536761.3:c.555G>A, XM_011536761.2:c.555G>A, XM_011536761.1:c.555G>A, NM_203309.2:c.555G>A, XR_002957552.2:n.555G>A, XR_002957552.1:n.1126G>A, XM_024449582.2:c.555G>A, XM_024449582.1:c.555G>A, NM_001220484.1:c.555G>A, XM_047431370.1:c.555G>A, XM_047431371.1:c.-527G>A

Select item 145791894919.

rs1457918949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:73522860 (GRCh38)
14:73989564 (GRCh37)
Canonical SPDI:: NC_000014.9:73522859:T:C
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.73522860T>C, NC_000014.8:g.73989564T>C, XM_011536761.4:c.293A>G, XM_011536761.3:c.293A>G, XM_011536761.2:c.293A>G, XM_011536761.1:c.293A>G, NM_203309.2:c.293A>G, XR_002957552.2:n.293A>G, XR_002957552.1:n.864A>G, XM_024449582.2:c.293A>G, XM_024449582.1:c.293A>G, NM_001220484.1:c.293A>G, XM_047431370.1:c.293A>G, XM_047431371.1:c.-789A>G, XP_011535063.1:p.Asn98Ser, NP_976054.2:p.Asn98Ser, XP_024305350.1:p.Asn98Ser, NP_001207413.1:p.Asn98Ser, XP_047287326.1:p.Asn98Ser

Select item 145764732820.

rs1457647328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:73523060 (GRCh38)
14:73989764 (GRCh37)
Canonical SPDI:: NC_000014.9:73523059:G:C
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,stop_gained,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73523060G>C, NC_000014.8:g.73989764G>C, XM_011536761.4:c.93C>G, XM_011536761.3:c.93C>G, XM_011536761.2:c.93C>G, XM_011536761.1:c.93C>G, NM_203309.2:c.93C>G, XR_002957552.2:n.93C>G, XR_002957552.1:n.664C>G, XM_024449582.2:c.93C>G, XM_024449582.1:c.93C>G, NM_001220484.1:c.93C>G, XM_047431370.1:c.93C>G, XM_047431371.1:c.-989C>G, XP_011535063.1:p.Tyr31Ter, NP_976054.2:p.Tyr31Ter, XP_024305350.1:p.Tyr31Ter, NP_001207413.1:p.Tyr31Ter, XP_047287326.1:p.Tyr31Ter

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