Linked Data
ClinVar Variation Id:
281429
dbSNP Id:
rs150610444
ExAC:
9:94487040 T / A
gnomAD v2:
9-94487040-T-A
gnomAD v3:
9-91724758-T-A
gnomAD v4:
9-91724758-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91724758T>A , CM000671.2:g.91724758T>A | GRCh38 |
| NC_000009.11:g.94487040T>A , CM000671.1:g.94487040T>A | GRCh37 |
| NC_000009.10:g.93526861T>A | NCBI36 |
| NG_008089.1:g.230405A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1736A>T MANE Select | ENSP00000364860.3:p.Asp579Val | |
| ENST00000375708.3:c.1736A>T | ENSP00000364860.3:p.Asp579Val | |
| ENST00000375715.5:c.1316A>T | ENSP00000364867.1:p.Asp439Val | |
| ENST00000550066.5:n.2204A>T | ||
| NM_004560.3:c.1736A>T | NP_004551.2:p.Asp579Val | |
| XM_005252008.3:c.1316A>T | XP_005252065.1:p.Asp439Val | |
| XM_005252009.3:c.533A>T | XP_005252066.1:p.Asp178Val | |
| XM_006717121.2:c.1316A>T | XP_006717184.1:p.Asp439Val | |
| XM_011518721.1:c.1316A>T | XP_011517023.1:p.Asp439Val | |
| XM_005252008.4:c.1316A>T | XP_005252065.1:p.Asp439Val | |
| XM_006717121.3:c.1316A>T | XP_006717184.1:p.Asp439Val | |
| XM_017014762.1:c.1727A>T | XP_016870251.1:p.Asp576Val | |
| XM_017014763.1:c.1316A>T | XP_016870252.1:p.Asp439Val | |
| NM_004560.4:c.1736A>T MANE Select | NP_004551.2:p.Asp579Val |