SNP Links for Protein (Select 4502131) - SNP

Select item 14903631601.

rs1490363160 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 11:6410994 (GRCh38)
11:6432224 (GRCh37)
Canonical SPDI:: NC_000011.10:6410993:A:C,NC_000011.10:6410993:A:G,NC_000011.10:6410993:A:T
Gene:: APBB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6410994A>C, NC_000011.10:g.6410994A>G, NC_000011.10:g.6410994A>T, NC_000011.9:g.6432224A>C, NC_000011.9:g.6432224A>G, NC_000011.9:g.6432224A>T, NG_029615.1:g.13421T>G, NG_029615.1:g.13421T>C, NG_029615.1:g.13421T>A, NM_001164.5:c.354T>G, NM_001164.5:c.354T>C, NM_001164.5:c.354T>A, NM_001164.4:c.354T>G, NM_001164.4:c.354T>C, NM_001164.4:c.354T>A, NM_001164.3:c.354T>G, NM_001164.3:c.354T>C, NM_001164.3:c.354T>A, NM_145689.3:c.354T>G, NM_145689.3:c.354T>C, NM_145689.3:c.354T>A, NM_145689.2:c.354T>G, NM_145689.2:c.354T>C, NM_145689.2:c.354T>A, NM_145689.1:c.354T>G, NM_145689.1:c.354T>C, NM_145689.1:c.354T>A, NR_047512.2:n.495T>G, NR_047512.2:n.495T>C, NR_047512.2:n.495T>A, NR_047512.1:n.486T>G, NR_047512.1:n.486T>C, NR_047512.1:n.486T>A

Select item 14868600272.

rs1486860027 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6401388 (GRCh38)
11:6422618 (GRCh37)
Canonical SPDI:: NC_000011.10:6401387:T:C
Gene:: APBB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_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_000011.10:g.6401388T>C, NC_000011.9:g.6422618T>C, NG_029615.1:g.23027A>G, NM_001164.5:c.1545A>G, NM_001164.4:c.1545A>G, NM_001164.3:c.1545A>G, NM_145689.3:c.1539A>G, NM_145689.2:c.1539A>G, NM_145689.1:c.1539A>G, NM_001257319.3:c.885A>G, NM_001257319.2:c.885A>G, NM_001257319.1:c.885A>G, NM_001257323.3:c.879A>G, NM_001257323.2:c.879A>G, NM_001257323.1:c.879A>G, NM_001257325.3:c.840A>G, NM_001257325.2:c.840A>G, NM_001257325.1:c.840A>G, NR_047512.2:n.1686A>G, NR_047512.1:n.1677A>G, NM_001257321.2:c.768A>G, NM_001257321.1:c.768A>G, NM_001257326.2:c.768A>G, NM_001257326.1:c.768A>G, NM_001257320.2:c.768A>G, NM_001257320.1:c.768A>G, NM_001257322.1:c.*117A>G, NM_001257324.1:c.*117A>G

Select item 14862800953.

rs1486280095 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:6411253 (GRCh38)
11:6432483 (GRCh37)
Canonical SPDI:: NC_000011.10:6411252:T:C,NC_000011.10:6411252:T:G
Gene:: APBB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6411253T>C, NC_000011.10:g.6411253T>G, NC_000011.9:g.6432483T>C, NC_000011.9:g.6432483T>G, NG_029615.1:g.13162A>G, NG_029615.1:g.13162A>C, NM_001164.5:c.95A>G, NM_001164.5:c.95A>C, NM_001164.4:c.95A>G, NM_001164.4:c.95A>C, NM_001164.3:c.95A>G, NM_001164.3:c.95A>C, NM_145689.3:c.95A>G, NM_145689.3:c.95A>C, NM_145689.2:c.95A>G, NM_145689.2:c.95A>C, NM_145689.1:c.95A>G, NM_145689.1:c.95A>C, NR_047512.2:n.236A>G, NR_047512.2:n.236A>C, NR_047512.1:n.227A>G, NR_047512.1:n.227A>C, NP_001155.1:p.His32Arg, NP_001155.1:p.His32Pro, NP_663722.1:p.His32Arg, NP_663722.1:p.His32Pro

Select item 14839560344.

rs1483956034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6403323 (GRCh38)
11:6424553 (GRCh37)
Canonical SPDI:: NC_000011.10:6403322:G:A
Gene:: APBB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6403323G>A, NC_000011.9:g.6424553G>A, NG_029615.1:g.21092C>T, NM_001164.5:c.1036C>T, NM_001164.4:c.1036C>T, NM_001164.3:c.1036C>T, NM_145689.3:c.1036C>T, NM_145689.2:c.1036C>T, NM_145689.1:c.1036C>T, NM_001257319.3:c.376C>T, NM_001257319.2:c.376C>T, NM_001257319.1:c.376C>T, NM_001257323.3:c.376C>T, NM_001257323.2:c.376C>T, NM_001257323.1:c.376C>T, NM_001257325.3:c.331C>T, NM_001257325.2:c.331C>T, NM_001257325.1:c.331C>T, NR_047512.2:n.1177C>T, NR_047512.1:n.1168C>T, NM_001257321.2:c.259C>T, NM_001257321.1:c.259C>T, NM_001257326.2:c.259C>T, NM_001257326.1:c.259C>T, NM_001257320.2:c.259C>T, NM_001257320.1:c.259C>T, NM_001257322.1:c.376C>T, NM_001257324.1:c.259C>T, NP_001155.1:p.Leu346Phe, NP_663722.1:p.Leu346Phe, NP_001244248.1:p.Leu126Phe, NP_001244252.1:p.Leu126Phe, NP_001244254.1:p.Leu111Phe, NP_001244250.1:p.Leu87Phe, NP_001244255.1:p.Leu87Phe, NP_001244249.1:p.Leu87Phe

Select item 14825863725.

rs1482586372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6411028 (GRCh38)
11:6432258 (GRCh37)
Canonical SPDI:: NC_000011.10:6411027:G:A
Gene:: APBB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.6411028G>A, NC_000011.9:g.6432258G>A, NG_029615.1:g.13387C>T, NM_001164.5:c.320C>T, NM_001164.4:c.320C>T, NM_001164.3:c.320C>T, NM_145689.3:c.320C>T, NM_145689.2:c.320C>T, NM_145689.1:c.320C>T, NR_047512.2:n.461C>T, NR_047512.1:n.452C>T, NP_001155.1:p.Pro107Leu, NP_663722.1:p.Pro107Leu

Select item 14822604256.

rs1482260425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6395666 (GRCh38)
11:6416896 (GRCh37)
Canonical SPDI:: NC_000011.10:6395665:C:T
Gene:: APBB1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.6395666C>T, NC_000011.9:g.6416896C>T, NG_029615.1:g.28749G>A, NM_001164.5:c.2001G>A, NM_001164.4:c.2001G>A, NM_001164.3:c.2001G>A, NM_145689.3:c.1995G>A, NM_145689.2:c.1995G>A, NM_145689.1:c.1995G>A, NM_001257319.3:c.1341G>A, NM_001257319.2:c.1341G>A, NM_001257319.1:c.1341G>A, NM_001257323.3:c.1335G>A, NM_001257323.2:c.1335G>A, NM_001257323.1:c.1335G>A, NM_001257325.3:c.1296G>A, NM_001257325.2:c.1296G>A, NM_001257325.1:c.1296G>A, NM_001257321.2:c.1224G>A, NM_001257321.1:c.1224G>A, NM_001257326.2:c.1224G>A, NM_001257326.1:c.1224G>A, NM_001257320.2:c.1224G>A, NM_001257320.1:c.1224G>A, NG_011780.1:g.10242C>T

Select item 14821019687.

rs1482101968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:6410674 (GRCh38)
11:6431904 (GRCh37)
Canonical SPDI:: NC_000011.10:6410673:G:C
Gene:: APBB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6410674G>C, NC_000011.9:g.6431904G>C, NG_029615.1:g.13741C>G, NM_001164.5:c.674C>G, NM_001164.4:c.674C>G, NM_001164.3:c.674C>G, NM_145689.3:c.674C>G, NM_145689.2:c.674C>G, NM_145689.1:c.674C>G, NR_047512.2:n.815C>G, NR_047512.1:n.806C>G, NP_001155.1:p.Ala225Gly, NP_663722.1:p.Ala225Gly

Select item 14812150988.

rs1481215098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6410817 (GRCh38)
11:6432047 (GRCh37)
Canonical SPDI:: NC_000011.10:6410816:T:C
Gene:: APBB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6410817T>C, NC_000011.9:g.6432047T>C, NG_029615.1:g.13598A>G, NM_001164.5:c.531A>G, NM_001164.4:c.531A>G, NM_001164.3:c.531A>G, NM_145689.3:c.531A>G, NM_145689.2:c.531A>G, NM_145689.1:c.531A>G, NR_047512.2:n.672A>G, NR_047512.1:n.663A>G

Select item 14808786289.

rs1480878628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6410692 (GRCh38)
11:6431922 (GRCh37)
Canonical SPDI:: NC_000011.10:6410691:T:C
Gene:: APBB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.6410692T>C, NC_000011.9:g.6431922T>C, NG_029615.1:g.13723A>G, NM_001164.5:c.656A>G, NM_001164.4:c.656A>G, NM_001164.3:c.656A>G, NM_145689.3:c.656A>G, NM_145689.2:c.656A>G, NM_145689.1:c.656A>G, NR_047512.2:n.797A>G, NR_047512.1:n.788A>G, NP_001155.1:p.Asp219Gly, NP_663722.1:p.Asp219Gly

Select item 148081757010.

rs1480817570 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:6411007 (GRCh38)
11:6432237 (GRCh37)
Canonical SPDI:: NC_000011.10:6411006:A:G
Gene:: APBB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.6411007A>G, NC_000011.9:g.6432237A>G, NG_029615.1:g.13408T>C, NM_001164.5:c.341T>C, NM_001164.4:c.341T>C, NM_001164.3:c.341T>C, NM_145689.3:c.341T>C, NM_145689.2:c.341T>C, NM_145689.1:c.341T>C, NR_047512.2:n.482T>C, NR_047512.1:n.473T>C, NP_001155.1:p.Ile114Thr, NP_663722.1:p.Ile114Thr

Select item 147708628911.

rs1477086289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6396187 (GRCh38)
11:6417417 (GRCh37)
Canonical SPDI:: NC_000011.10:6396186:C:T
Gene:: APBB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000094/2 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6396187C>T, NC_000011.9:g.6417417C>T, NG_029615.1:g.28228G>A, NM_001164.5:c.1701G>A, NM_001164.4:c.1701G>A, NM_001164.3:c.1701G>A, NM_145689.3:c.1695G>A, NM_145689.2:c.1695G>A, NM_145689.1:c.1695G>A, NM_001257319.3:c.1041G>A, NM_001257319.2:c.1041G>A, NM_001257319.1:c.1041G>A, NM_001257323.3:c.1035G>A, NM_001257323.2:c.1035G>A, NM_001257323.1:c.1035G>A, NM_001257325.3:c.996G>A, NM_001257325.2:c.996G>A, NM_001257325.1:c.996G>A, NR_047512.2:n.1842G>A, NR_047512.1:n.1833G>A, NM_001257321.2:c.924G>A, NM_001257321.1:c.924G>A, NM_001257326.2:c.924G>A, NM_001257326.1:c.924G>A, NM_001257320.2:c.924G>A, NM_001257320.1:c.924G>A, NG_011780.1:g.10763C>T

Select item 147620226712.

rs1476202267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:6410845 (GRCh38)
11:6432075 (GRCh37)
Canonical SPDI:: NC_000011.10:6410844:T:C,NC_000011.10:6410844:T:G
Gene:: APBB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.6410845T>C, NC_000011.10:g.6410845T>G, NC_000011.9:g.6432075T>C, NC_000011.9:g.6432075T>G, NG_029615.1:g.13570A>G, NG_029615.1:g.13570A>C, NM_001164.5:c.503A>G, NM_001164.5:c.503A>C, NM_001164.4:c.503A>G, NM_001164.4:c.503A>C, NM_001164.3:c.503A>G, NM_001164.3:c.503A>C, NM_145689.3:c.503A>G, NM_145689.3:c.503A>C, NM_145689.2:c.503A>G, NM_145689.2:c.503A>C, NM_145689.1:c.503A>G, NM_145689.1:c.503A>C, NR_047512.2:n.644A>G, NR_047512.2:n.644A>C, NR_047512.1:n.635A>G, NR_047512.1:n.635A>C, NP_001155.1:p.Glu168Gly, NP_001155.1:p.Glu168Ala, NP_663722.1:p.Glu168Gly, NP_663722.1:p.Glu168Ala

Select item 147608392413.

rs1476083924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6395675 (GRCh38)
11:6416905 (GRCh37)
Canonical SPDI:: NC_000011.10:6395674:G:A
Gene:: APBB1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000013/3 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000011.10:g.6395675G>A, NC_000011.9:g.6416905G>A, NG_029615.1:g.28740C>T, NM_001164.5:c.1992C>T, NM_001164.4:c.1992C>T, NM_001164.3:c.1992C>T, NM_145689.3:c.1986C>T, NM_145689.2:c.1986C>T, NM_145689.1:c.1986C>T, NM_001257319.3:c.1332C>T, NM_001257319.2:c.1332C>T, NM_001257319.1:c.1332C>T, NM_001257323.3:c.1326C>T, NM_001257323.2:c.1326C>T, NM_001257323.1:c.1326C>T, NM_001257325.3:c.1287C>T, NM_001257325.2:c.1287C>T, NM_001257325.1:c.1287C>T, NM_001257321.2:c.1215C>T, NM_001257321.1:c.1215C>T, NM_001257326.2:c.1215C>T, NM_001257326.1:c.1215C>T, NM_001257320.2:c.1215C>T, NM_001257320.1:c.1215C>T, NG_011780.1:g.10251G>A

Select item 147408070714.

rs1474080707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:6403520 (GRCh38)
11:6424750 (GRCh37)
Canonical SPDI:: NC_000011.10:6403519:C:G
Gene:: APBB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.6403520C>G, NC_000011.9:g.6424750C>G, NG_029615.1:g.20895G>C, NM_001164.5:c.922G>C, NM_001164.4:c.922G>C, NM_001164.3:c.922G>C, NM_145689.3:c.922G>C, NM_145689.2:c.922G>C, NM_145689.1:c.922G>C, NM_001257319.3:c.262G>C, NM_001257319.2:c.262G>C, NM_001257319.1:c.262G>C, NM_001257323.3:c.262G>C, NM_001257323.2:c.262G>C, NM_001257323.1:c.262G>C, NM_001257325.3:c.217G>C, NM_001257325.2:c.217G>C, NM_001257325.1:c.217G>C, NR_047512.2:n.1063G>C, NR_047512.1:n.1054G>C, NM_001257321.2:c.145G>C, NM_001257321.1:c.145G>C, NM_001257326.2:c.145G>C, NM_001257326.1:c.145G>C, NM_001257320.2:c.145G>C, NM_001257320.1:c.145G>C, NM_001257322.1:c.262G>C, NM_001257324.1:c.145G>C, NP_001155.1:p.Gly308Arg, NP_663722.1:p.Gly308Arg, NP_001244248.1:p.Gly88Arg, NP_001244252.1:p.Gly88Arg, NP_001244254.1:p.Gly73Arg, NP_001244250.1:p.Gly49Arg, NP_001244255.1:p.Gly49Arg, NP_001244249.1:p.Gly49Arg

Select item 147122061715.

rs1471220617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:6395593 (GRCh38)
11:6416823 (GRCh37)
Canonical SPDI:: NC_000011.10:6395592:C:A,NC_000011.10:6395592:C:T
Gene:: APBB1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.6395593C>A, NC_000011.10:g.6395593C>T, NC_000011.9:g.6416823C>A, NC_000011.9:g.6416823C>T, NG_029615.1:g.28822G>T, NG_029615.1:g.28822G>A, NM_001164.5:c.2074G>T, NM_001164.5:c.2074G>A, NM_001164.4:c.2074G>T, NM_001164.4:c.2074G>A, NM_001164.3:c.2074G>T, NM_001164.3:c.2074G>A, NM_145689.3:c.2068G>T, NM_145689.3:c.2068G>A, NM_145689.2:c.2068G>T, NM_145689.2:c.2068G>A, NM_145689.1:c.2068G>T, NM_145689.1:c.2068G>A, NM_001257319.3:c.1414G>T, NM_001257319.3:c.1414G>A, NM_001257319.2:c.1414G>T, NM_001257319.2:c.1414G>A, NM_001257319.1:c.1414G>T, NM_001257319.1:c.1414G>A, NM_001257323.3:c.1408G>T, NM_001257323.3:c.1408G>A, NM_001257323.2:c.1408G>T, NM_001257323.2:c.1408G>A, NM_001257323.1:c.1408G>T, NM_001257323.1:c.1408G>A, NM_001257325.3:c.1369G>T, NM_001257325.3:c.1369G>A, NM_001257325.2:c.1369G>T, NM_001257325.2:c.1369G>A, NM_001257325.1:c.1369G>T, NM_001257325.1:c.1369G>A, NM_001257321.2:c.1297G>T, NM_001257321.2:c.1297G>A, NM_001257321.1:c.1297G>T, NM_001257321.1:c.1297G>A, NM_001257326.2:c.1297G>T, NM_001257326.2:c.1297G>A, NM_001257326.1:c.1297G>T, NM_001257326.1:c.1297G>A, NM_001257320.2:c.1297G>T, NM_001257320.2:c.1297G>A, NM_001257320.1:c.1297G>T, NM_001257320.1:c.1297G>A, NG_011780.1:g.10169C>A, NG_011780.1:g.10169C>T, NP_001155.1:p.Gly692Cys, NP_001155.1:p.Gly692Ser, NP_663722.1:p.Gly690Cys, NP_663722.1:p.Gly690Ser, NP_001244248.1:p.Gly472Cys, NP_001244248.1:p.Gly472Ser, NP_001244252.1:p.Gly470Cys, NP_001244252.1:p.Gly470Ser, NP_001244254.1:p.Gly457Cys, NP_001244254.1:p.Gly457Ser, NP_001244250.1:p.Gly433Cys, NP_001244250.1:p.Gly433Ser, NP_001244255.1:p.Gly433Cys, NP_001244255.1:p.Gly433Ser, NP_001244249.1:p.Gly433Cys, NP_001244249.1:p.Gly433Ser

Select item 146342443316.

rs1463424433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6410841 (GRCh38)
11:6432071 (GRCh37)
Canonical SPDI:: NC_000011.10:6410840:C:T
Gene:: APBB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.6410841C>T, NC_000011.9:g.6432071C>T, NG_029615.1:g.13574G>A, NM_001164.5:c.507G>A, NM_001164.4:c.507G>A, NM_001164.3:c.507G>A, NM_145689.3:c.507G>A, NM_145689.2:c.507G>A, NM_145689.1:c.507G>A, NR_047512.2:n.648G>A, NR_047512.1:n.639G>A

Select item 146298690517.

rs1462986905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:6411164 (GRCh38)
11:6432394 (GRCh37)
Canonical SPDI:: NC_000011.10:6411163:G:A,NC_000011.10:6411163:G:C
Gene:: APBB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.6411164G>A, NC_000011.10:g.6411164G>C, NC_000011.9:g.6432394G>A, NC_000011.9:g.6432394G>C, NG_029615.1:g.13251C>T, NG_029615.1:g.13251C>G, NM_001164.5:c.184C>T, NM_001164.5:c.184C>G, NM_001164.4:c.184C>T, NM_001164.4:c.184C>G, NM_001164.3:c.184C>T, NM_001164.3:c.184C>G, NM_145689.3:c.184C>T, NM_145689.3:c.184C>G, NM_145689.2:c.184C>T, NM_145689.2:c.184C>G, NM_145689.1:c.184C>T, NM_145689.1:c.184C>G, NR_047512.2:n.325C>T, NR_047512.2:n.325C>G, NR_047512.1:n.316C>T, NR_047512.1:n.316C>G, NP_001155.1:p.Pro62Ser, NP_001155.1:p.Pro62Ala, NP_663722.1:p.Pro62Ser, NP_663722.1:p.Pro62Ala

Select item 146081777018.

rs1460817770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6402159 (GRCh38)
11:6423389 (GRCh37)
Canonical SPDI:: NC_000011.10:6402158:C:T
Gene:: APBB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6402159C>T, NC_000011.9:g.6423389C>T, NG_029615.1:g.22256G>A, NM_001164.5:c.1305G>A, NM_001164.4:c.1305G>A, NM_001164.3:c.1305G>A, NM_145689.3:c.1305G>A, NM_145689.2:c.1305G>A, NM_145689.1:c.1305G>A, NM_001257319.3:c.645G>A, NM_001257319.2:c.645G>A, NM_001257319.1:c.645G>A, NM_001257323.3:c.645G>A, NM_001257323.2:c.645G>A, NM_001257323.1:c.645G>A, NM_001257325.3:c.600G>A, NM_001257325.2:c.600G>A, NM_001257325.1:c.600G>A, NR_047512.2:n.1446G>A, NR_047512.1:n.1437G>A, NM_001257321.2:c.528G>A, NM_001257321.1:c.528G>A, NM_001257326.2:c.528G>A, NM_001257326.1:c.528G>A, NM_001257320.2:c.528G>A, NM_001257320.1:c.528G>A, NM_001257322.1:c.645G>A, NM_001257324.1:c.528G>A

Select item 146030044419.

rs1460300444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:6396166 (GRCh38)
11:6417396 (GRCh37)
Canonical SPDI:: NC_000011.10:6396165:G:A,NC_000011.10:6396165:G:T
Gene:: APBB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.6396166G>A, NC_000011.10:g.6396166G>T, NC_000011.9:g.6417396G>A, NC_000011.9:g.6417396G>T, NG_029615.1:g.28249C>T, NG_029615.1:g.28249C>A, NM_001164.5:c.1722C>T, NM_001164.5:c.1722C>A, NM_001164.4:c.1722C>T, NM_001164.4:c.1722C>A, NM_001164.3:c.1722C>T, NM_001164.3:c.1722C>A, NM_145689.3:c.1716C>T, NM_145689.3:c.1716C>A, NM_145689.2:c.1716C>T, NM_145689.2:c.1716C>A, NM_145689.1:c.1716C>T, NM_145689.1:c.1716C>A, NM_001257319.3:c.1062C>T, NM_001257319.3:c.1062C>A, NM_001257319.2:c.1062C>T, NM_001257319.2:c.1062C>A, NM_001257319.1:c.1062C>T, NM_001257319.1:c.1062C>A, NM_001257323.3:c.1056C>T, NM_001257323.3:c.1056C>A, NM_001257323.2:c.1056C>T, NM_001257323.2:c.1056C>A, NM_001257323.1:c.1056C>T, NM_001257323.1:c.1056C>A, NM_001257325.3:c.1017C>T, NM_001257325.3:c.1017C>A, NM_001257325.2:c.1017C>T, NM_001257325.2:c.1017C>A, NM_001257325.1:c.1017C>T, NM_001257325.1:c.1017C>A, NR_047512.2:n.1863C>T, NR_047512.2:n.1863C>A, NR_047512.1:n.1854C>T, NR_047512.1:n.1854C>A, NM_001257321.2:c.945C>T, NM_001257321.2:c.945C>A, NM_001257321.1:c.945C>T, NM_001257321.1:c.945C>A, NM_001257326.2:c.945C>T, NM_001257326.2:c.945C>A, NM_001257326.1:c.945C>T, NM_001257326.1:c.945C>A, NM_001257320.2:c.945C>T, NM_001257320.2:c.945C>A, NM_001257320.1:c.945C>T, NM_001257320.1:c.945C>A, NG_011780.1:g.10742G>A, NG_011780.1:g.10742G>T, NP_001155.1:p.Ser574Arg, NP_663722.1:p.Ser572Arg, NP_001244248.1:p.Ser354Arg, NP_001244252.1:p.Ser352Arg, NP_001244254.1:p.Ser339Arg, NP_001244250.1:p.Ser315Arg, NP_001244255.1:p.Ser315Arg, NP_001244249.1:p.Ser315Arg

Select item 145893977520.

rs1458939775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6402098 (GRCh38)
11:6423328 (GRCh37)
Canonical SPDI:: NC_000011.10:6402097:C:T
Gene:: APBB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6402098C>T, NC_000011.9:g.6423328C>T, NG_029615.1:g.22317G>A, NM_001164.5:c.1366G>A, NM_001164.4:c.1366G>A, NM_001164.3:c.1366G>A, NM_145689.3:c.1366G>A, NM_145689.2:c.1366G>A, NM_145689.1:c.1366G>A, NM_001257319.3:c.706G>A, NM_001257319.2:c.706G>A, NM_001257319.1:c.706G>A, NM_001257323.3:c.706G>A, NM_001257323.2:c.706G>A, NM_001257323.1:c.706G>A, NM_001257325.3:c.661G>A, NM_001257325.2:c.661G>A, NM_001257325.1:c.661G>A, NR_047512.2:n.1507G>A, NR_047512.1:n.1498G>A, NM_001257321.2:c.589G>A, NM_001257321.1:c.589G>A, NM_001257326.2:c.589G>A, NM_001257326.1:c.589G>A, NM_001257320.2:c.589G>A, NM_001257320.1:c.589G>A, NM_001257322.1:c.706G>A, NM_001257324.1:c.589G>A, NP_001155.1:p.Gly456Arg, NP_663722.1:p.Gly456Arg, NP_001244248.1:p.Gly236Arg, NP_001244252.1:p.Gly236Arg, NP_001244254.1:p.Gly221Arg, NP_001244250.1:p.Gly197Arg, NP_001244255.1:p.Gly197Arg, NP_001244249.1:p.Gly197Arg

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Result Filters

Clinical Significance

Validation Status

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Items: 1 to 20 of 689

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