Linked Data
ClinVar Variation Id:
1143157
ClinVar RCV Id:
RCV001481193
dbSNP Id:
rs180945242
gnomAD v3:
3-184140615-G-A
gnomAD v4:
3-184140615-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184140615G>A , CM000665.2:g.184140615G>A | GRCh38 |
| NC_000003.11:g.183858403G>A , CM000665.1:g.183858403G>A | GRCh37 |
| NC_000003.10:g.185341097G>A | NCBI36 |
| NG_015826.1:g.10594G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.1064G>A | ||
| ENST00000468748.7:n.1284G>A | ||
| ENST00000484154.2:n.1387-1310G>A | ||
| ENST00000491008.6:n.1789G>A | ||
| ENST00000492226.2:n.1298G>A | ||
| ENST00000492773.6:c.795G>A | ||
| ENST00000647636.1:c.1041G>A | ENSP00000497505.1:p.Glu347= | |
| ENST00000647909.1:c.1065G>A | ENSP00000498164.1:p.Glu355= | |
| ENST00000648145.1:c.809G>A | ||
| ENST00000648189.1:c.855G>A | ||
| ENST00000648256.1:c.1013G>A | ENSP00000497356.1:n.1013G>A | |
| ENST00000648314.1:c.*160G>A | ENSP00000496920.1:n.*160G>A | |
| ENST00000648599.1:c.*324G>A | ENSP00000497159.1:n.*324G>A | |
| ENST00000648630.1:c.1035G>A | ENSP00000497887.1:p.Glu345= | |
| ENST00000648682.1:c.1041G>A | ENSP00000498185.1:p.Glu347= | |
| ENST00000648882.1:c.*867G>A | ENSP00000497603.1:n.*867G>A | |
| ENST00000648890.1:c.1041G>A | ENSP00000497503.1:p.Glu347= | |
| ENST00000648915.2:c.1041G>A MANE Select | ENSP00000497160.1:p.Glu347= | |
| ENST00000649545.1:c.577+458G>A | ||
| ENST00000649688.1:c.*324G>A | ENSP00000497097.1:n.*324G>A | |
| ENST00000649814.1:n.1090G>A | ||
| ENST00000650270.1:c.908G>A | ||
| ENST00000273783.7:c.1041G>A | ENSP00000273783.3:p.Glu347= | |
| ENST00000432982.5:c.246-1622G>A | ||
| ENST00000444495.1:c.1041G>A | ENSP00000409142.1:p.Glu347= | |
| ENST00000479833.1:n.357G>A | ||
| ENST00000481054.5:n.1135G>A | ||
| ENST00000491144.5:n.1545G>A | ||
| ENST00000493740.1:n.271G>A | ||
| NM_003907.2:c.1041G>A | NP_003898.2:p.Glu347= | |
| XM_011513265.1:c.291G>A | XP_011511567.1:p.Glu97= | |
| XM_011513266.1:c.204G>A | XP_011511568.1:p.Glu68= | |
| XR_924208.1:n.1992G>A | ||
| NM_003907.3:c.1041G>A MANE Select | NP_003898.2:p.Glu347= | |
| XM_011513266.3:c.204G>A | XP_011511568.1:p.Glu68= | |
| XR_001740352.2:n.1404G>A | ||
| XR_001740353.2:n.1404G>A | ||
| XR_924208.2:n.1404G>A |