Linked Data
ClinVar Variation Id:
430846
ClinVar RCV Id:
RCV000495948
dbSNP Id:
rs1131692184
gnomAD v4:
7-148807689-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807689G>T , CM000669.2:g.148807689G>T | GRCh38 |
| NC_000007.13:g.148504781G>T , CM000669.1:g.148504781G>T | GRCh37 |
| NC_000007.12:g.148135714G>T | NCBI36 |
| NG_032043.1:g.81661C>A , LRG_531:g.81661C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682263.1:n.4113C>A | ||
| ENST00000682317.1:c.*1275C>A | ENSP00000508286.1:n.*1275C>A | |
| ENST00000683292.1:c.*1109C>A | ENSP00000507503.1:n.*1109C>A | |
| ENST00000683293.1:n.3932C>A | ||
| ENST00000683744.1:c.*1275C>A | ENSP00000506949.1:n.*1275C>A | |
| ENST00000684300.1:c.*1275C>A | ENSP00000508407.1:n.*1275C>A | |
| ENST00000684400.1:n.4200C>A | ||
| ENST00000684436.1:n.2529C>A | ||
| ENST00000684510.1:n.2591C>A | ||
| ENST00000320356.7:c.2213C>A MANE Select | ENSP00000320147.2:p.Ala738Asp | |
| ENST00000320356.6:c.2213C>A | ENSP00000320147.2:p.Ala738Asp | |
| ENST00000350995.6:c.2081C>A | ENSP00000223193.2:p.Ala694Asp | |
| ENST00000460911.5:c.2198C>A | ENSP00000419711.1:p.Ala733Asp | |
| ENST00000476773.5:c.2045C>A | ENSP00000419050.1:p.Ala682Asp | |
| ENST00000478654.5:c.2045C>A | ENSP00000417062.1:p.Ala682Asp | |
| ENST00000483967.5:c.2171C>A | ENSP00000419856.1:p.Ala724Asp | |
| ENST00000492143.5:c.*2203C>A | ENSP00000417377.1:n.*2203C>A | |
| NM_001203247.1:c.2198C>A | NP_001190176.1:p.Ala733Asp | |
| NM_001203248.1:c.2171C>A | NP_001190177.1:p.Ala724Asp | |
| NM_001203249.1:c.2045C>A | NP_001190178.1:p.Ala682Asp | |
| NM_004456.4:c.2213C>A , LRG_531t1:c.2213C>A | NP_004447.2:p.Ala738Asp | |
| NM_152998.2:c.2081C>A | NP_694543.1:p.Ala694Asp | |
| XM_005249962.3:c.2222C>A | XP_005250019.1:p.Ala741Asp | |
| XM_005249963.3:c.2195C>A | XP_005250020.1:p.Ala732Asp | |
| XM_005249964.3:c.2069C>A | XP_005250021.1:p.Ala690Asp | |
| XM_011515883.1:c.2237C>A | XP_011514185.1:p.Ala746Asp | |
| XM_011515884.1:c.2213C>A | XP_011514186.1:p.Ala738Asp | |
| XM_011515885.1:c.2210C>A | XP_011514187.1:p.Ala737Asp | |
| XM_011515886.1:c.2189C>A | XP_011514188.1:p.Ala730Asp | |
| XM_011515887.1:c.2186C>A | XP_011514189.1:p.Ala729Asp | |
| XM_011515888.1:c.2186C>A | XP_011514190.1:p.Ala729Asp | |
| XM_011515889.1:c.2147C>A | XP_011514191.1:p.Ala716Asp | |
| XM_011515890.1:c.2120C>A | XP_011514192.1:p.Ala707Asp | |
| XM_011515891.1:c.2114C>A | XP_011514193.1:p.Ala705Asp | |
| XM_011515892.1:c.2111C>A | XP_011514194.1:p.Ala704Asp | |
| XM_011515893.1:c.2105C>A | XP_011514195.1:p.Ala702Asp | |
| XM_011515894.1:c.2096C>A | XP_011514196.1:p.Ala699Asp | |
| XM_011515895.1:c.2093C>A | XP_011514197.1:p.Ala698Asp | |
| XM_011515896.1:c.1979C>A | XP_011514198.1:p.Ala660Asp | |
| XM_011515897.1:c.1886C>A | XP_011514199.1:p.Ala629Asp | |
| XM_011515898.1:c.1886C>A | XP_011514200.1:p.Ala629Asp | |
| XR_928101.1:n.515+2604G>T | ||
| XR_928102.1:n.722+2604G>T | ||
| XM_005249962.4:c.2222C>A | XP_005250019.1:p.Ala741Asp | |
| XM_005249963.4:c.2195C>A | XP_005250020.1:p.Ala732Asp | |
| XM_005249964.4:c.2069C>A | XP_005250021.1:p.Ala690Asp | |
| XM_011515883.2:c.2237C>A | XP_011514185.1:p.Ala746Asp | |
| XM_011515884.2:c.2213C>A | XP_011514186.1:p.Ala738Asp | |
| XM_011515885.2:c.2210C>A | XP_011514187.1:p.Ala737Asp | |
| XM_011515886.2:c.2189C>A | XP_011514188.1:p.Ala730Asp | |
| XM_011515887.3:c.2186C>A | XP_011514189.1:p.Ala729Asp | |
| XM_011515888.2:c.2186C>A | XP_011514190.1:p.Ala729Asp | |
| XM_011515889.2:c.2147C>A | XP_011514191.1:p.Ala716Asp | |
| XM_011515890.2:c.2120C>A | XP_011514192.1:p.Ala707Asp | |
| XM_011515891.3:c.2114C>A | XP_011514193.1:p.Ala705Asp | |
| XM_011515892.2:c.2111C>A | XP_011514194.1:p.Ala704Asp | |
| XM_011515893.2:c.2105C>A | XP_011514195.1:p.Ala702Asp | |
| XM_011515894.2:c.2096C>A | XP_011514196.1:p.Ala699Asp | |
| XM_011515895.2:c.2093C>A | XP_011514197.1:p.Ala698Asp | |
| XM_011515896.2:c.1979C>A | XP_011514198.1:p.Ala660Asp | |
| XM_011515897.2:c.1886C>A | XP_011514199.1:p.Ala629Asp | |
| XM_011515898.2:c.1886C>A | XP_011514200.1:p.Ala629Asp | |
| XM_017011817.2:c.2237C>A | XP_016867306.1:p.Ala746Asp | |
| XM_017011818.1:c.2174C>A | XP_016867307.1:p.Ala725Asp | |
| XM_017011819.1:c.2096C>A | XP_016867308.1:p.Ala699Asp | |
| XM_017011820.2:c.2069C>A | XP_016867309.1:p.Ala690Asp | |
| XM_017011821.1:c.1871C>A | XP_016867310.1:p.Ala624Asp | |
| XM_024446680.1:c.2099C>A | XP_024302448.1:p.Ala700Asp | |
| XR_001744581.1:n.4587C>A | ||
| XR_002956413.1:n.5243C>A | ||
| XR_002956414.1:n.5703C>A | ||
| NM_001203247.2:c.2198C>A | NP_001190176.1:p.Ala733Asp | |
| NM_001203248.2:c.2171C>A | NP_001190177.1:p.Ala724Asp | |
| NM_001203249.2:c.2045C>A | NP_001190178.1:p.Ala682Asp | |
| NM_004456.5:c.2213C>A MANE Select | NP_004447.2:p.Ala738Asp | |
| NM_152998.3:c.2081C>A | NP_694543.1:p.Ala694Asp |