Linked Data
dbSNP Id:
rs751241980
ExAC:
Y:21868037 G / A
gnomAD v2:
Y-21868037-G-A
gnomAD v3:
Y-19706151-G-A
gnomAD v4:
Y-19706151-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19706151G>A , CM000686.2:g.19706151G>A | GRCh38 |
| NC_000024.9:g.21868037G>A , CM000686.1:g.21868037G>A | GRCh37 |
| NC_000024.8:g.20327425G>A | NCBI36 |
| NG_032920.1:g.43789C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317961.9:c.4464C>T MANE Select | ENSP00000322408.4:p.Asp1488= | |
| ENST00000317961.8:c.4464C>T | ENSP00000322408.4:p.Asp1488= | |
| ENST00000382806.6:c.4293C>T | ENSP00000372256.2:p.Asp1431= | |
| ENST00000440077.5:c.4341C>T | ENSP00000398543.1:p.Asp1447= | |
| ENST00000469599.6:n.3215C>T | ||
| ENST00000492117.1:n.4509C>T | ||
| ENST00000541639.5:c.4557C>T | ENSP00000444293.1:p.Asp1519= | |
| NM_001146705.1:c.4557C>T | NP_001140177.1:p.Asp1519= | |
| NM_001146706.1:c.4293C>T | NP_001140178.1:p.Asp1431= | |
| NM_004653.4:c.4464C>T | NP_004644.2:p.Asp1488= | |
| XM_005262560.1:c.4329C>T | XP_005262617.1:p.Asp1443= | |
| XM_005262561.1:c.4233C>T | XP_005262618.1:p.Asp1411= | |
| XM_011531468.1:c.4386C>T | XP_011529770.1:p.Asp1462= | |
| XR_430568.2:n.5239C>T | ||
| XM_005262560.3:c.4329C>T | XP_005262617.1:p.Asp1443= | |
| XM_005262561.3:c.4233C>T | XP_005262618.1:p.Asp1411= | |
| XM_011531468.3:c.4386C>T | XP_011529770.1:p.Asp1462= | |
| XM_024452495.1:c.2454C>T | XP_024308263.1:p.Asp818= | |
| XM_024452496.1:c.2220C>T | XP_024308264.1:p.Asp740= | |
| XR_001756009.2:n.5202C>T | ||
| XR_001756010.2:n.5170C>T | ||
| XR_001756011.2:n.5067C>T | ||
| XR_001756012.2:n.5215C>T | ||
| XR_001756013.2:n.4533C>T | ||
| XR_002958832.1:n.4787C>T | ||
| XR_002958834.1:n.4858C>T | ||
| XR_002958835.1:n.4741C>T | ||
| XR_002958836.1:n.5392C>T | ||
| XR_002958837.1:n.5199C>T | ||
| XR_244571.4:n.4719C>T | ||
| XR_430568.4:n.5238C>T | ||
| NM_001146706.2:c.4293C>T | NP_001140178.1:p.Asp1431= | |
| NM_004653.5:c.4464C>T MANE Select | NP_004644.2:p.Asp1488= | |
| NM_001146705.2:c.4557C>T | NP_001140177.1:p.Asp1519= |