Linked Data
dbSNP Id:
rs372588508
ExAC:
Y:21869937 G / A
gnomAD v2:
Y-21869937-G-A
gnomAD v3:
Y-19708051-G-A
gnomAD v4:
Y-19708051-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19708051G>A , CM000686.2:g.19708051G>A | GRCh38 |
| NC_000024.9:g.21869937G>A , CM000686.1:g.21869937G>A | GRCh37 |
| NC_000024.8:g.20329325G>A | NCBI36 |
| NG_032920.1:g.41889C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317961.9:c.3282C>T MANE Select | ENSP00000322408.4:p.Asp1094= | |
| ENST00000317961.8:c.3282C>T | ENSP00000322408.4:p.Asp1094= | |
| ENST00000382806.6:c.3111C>T | ENSP00000372256.2:p.Asp1037= | |
| ENST00000415360.1:c.198C>T | ENSP00000389433.1:p.Asp66= | |
| ENST00000440077.5:c.3159C>T | ENSP00000398543.1:p.Asp1053= | |
| ENST00000469599.6:n.1880C>T | ||
| ENST00000492117.1:n.3174C>T | ||
| ENST00000541639.5:c.3375C>T | ENSP00000444293.1:p.Asp1125= | |
| NM_001146705.1:c.3375C>T | NP_001140177.1:p.Asp1125= | |
| NM_001146706.1:c.3111C>T | NP_001140178.1:p.Asp1037= | |
| NM_004653.4:c.3282C>T | NP_004644.2:p.Asp1094= | |
| XM_005262560.1:c.3147C>T | XP_005262617.1:p.Asp1049= | |
| XM_005262561.1:c.3051C>T | XP_005262618.1:p.Asp1017= | |
| XM_011531468.1:c.3204C>T | XP_011529770.1:p.Asp1068= | |
| XR_244571.2:n.3570C>T | ||
| XR_430568.2:n.3904C>T | ||
| XM_005262560.3:c.3147C>T | XP_005262617.1:p.Asp1049= | |
| XM_005262561.3:c.3051C>T | XP_005262618.1:p.Asp1017= | |
| XM_011531468.3:c.3204C>T | XP_011529770.1:p.Asp1068= | |
| XM_024452495.1:c.1272C>T | XP_024308263.1:p.Asp424= | |
| XM_024452496.1:c.1038C>T | XP_024308264.1:p.Asp346= | |
| XR_001756009.2:n.4020C>T | ||
| XR_001756010.2:n.4020C>T | ||
| XR_001756011.2:n.3885C>T | ||
| XR_001756012.2:n.4033C>T | ||
| XR_001756013.2:n.3351C>T | ||
| XR_002958832.1:n.3452C>T | ||
| XR_002958834.1:n.3676C>T | ||
| XR_002958835.1:n.3559C>T | ||
| XR_002958836.1:n.4242C>T | ||
| XR_002958837.1:n.4049C>T | ||
| XR_244571.4:n.3569C>T | ||
| XR_430568.4:n.3903C>T | ||
| NM_001146706.2:c.3111C>T | NP_001140178.1:p.Asp1037= | |
| NM_004653.5:c.3282C>T MANE Select | NP_004644.2:p.Asp1094= | |
| NM_001146705.2:c.3375C>T | NP_001140177.1:p.Asp1125= |