Linked Data
ClinVar Variation Id:
265344
ClinVar RCV Id:
RCV000255297
dbSNP Id:
rs745973997
ExAC:
9:2646435 G / A
gnomAD v2:
9-2646435-G-A
gnomAD v4:
9-2646435-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2646435G>A , CM000671.2:g.2646435G>A | GRCh38 |
| NC_000009.11:g.2646435G>A , CM000671.1:g.2646435G>A | GRCh37 |
| NC_000009.10:g.2636435G>A | NCBI36 |
| NG_012741.1:g.29643G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382099.3:c.1144G>A | ||
| ENST00000382100.8:c.1586G>A MANE Select | ENSP00000371532.2:p.Trp529Ter | |
| ENST00000478776.2:n.1031G>A | ||
| ENST00000679718.1:n.822G>A | ||
| ENST00000679750.1:n.1002G>A | ||
| ENST00000679851.1:n.1770G>A | ||
| ENST00000680021.1:n.1786G>A | ||
| ENST00000680043.1:c.1138G>A | ||
| ENST00000680219.1:c.1153G>A | ||
| ENST00000680243.1:c.*1365G>A | ENSP00000505911.1:n.*1365G>A | |
| ENST00000680296.1:c.1012G>A | ||
| ENST00000680332.1:n.604G>A | ||
| ENST00000680746.1:c.1463G>A | ENSP00000505030.1:p.Trp488Ter | |
| ENST00000680751.1:n.991G>A | ||
| ENST00000680891.1:c.*1378G>A | ENSP00000505167.1:n.*1378G>A | |
| ENST00000680975.1:n.971G>A | ||
| ENST00000681087.1:n.1031G>A | ||
| ENST00000681306.1:c.1586G>A | ENSP00000506072.1:p.Trp529Ter | |
| ENST00000681618.1:c.1463G>A | ENSP00000505773.1:p.Trp488Ter | |
| ENST00000681644.1:c.*1258G>A | ENSP00000505180.1:n.*1258G>A | |
| ENST00000681806.1:c.*24G>A | ENSP00000505282.1:n.*24G>A | |
| ENST00000681942.1:c.1069G>A | ||
| ENST00000382099.2:c.1586G>A | ENSP00000371531.2:p.Trp529Ter | |
| ENST00000382100.7:c.1586G>A | ENSP00000371532.2:p.Trp529Ter | |
| ENST00000478776.1:n.98G>A | ||
| NM_001018056.1:c.1586G>A | NP_001018066.1:p.Trp529Ter | |
| NM_003383.3:c.1586G>A | NP_003374.3:p.Trp529Ter | |
| XM_011518029.1:c.1463G>A | XP_011516331.1:p.Trp488Ter | |
| NM_001018056.2:c.1586G>A | NP_001018066.1:p.Trp529Ter | |
| NM_001322225.1:c.1463G>A | NP_001309154.1:p.Trp488Ter | |
| NM_001322226.1:c.1463G>A | NP_001309155.1:p.Trp488Ter | |
| NM_003383.4:c.1586G>A | NP_003374.3:p.Trp529Ter | |
| XR_001746373.2:n.1925G>A | ||
| XR_002956805.1:n.1925G>A | ||
| NM_003383.5:c.1586G>A MANE Select | NP_003374.3:p.Trp529Ter | |
| NM_001018056.3:c.1586G>A | NP_001018066.1:p.Trp529Ter | |
| NM_001322225.2:c.1463G>A | NP_001309154.1:p.Trp488Ter | |
| NM_001322226.2:c.1463G>A | NP_001309155.1:p.Trp488Ter |