Linked Data
dbSNP Id:
rs762008206
ExAC:
X:38535071 A / T
gnomAD v2:
X-38535071-A-T
gnomAD v3:
X-38675817-A-T
gnomAD v4:
X-38675817-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675817A>T , CM000685.2:g.38675817A>T | GRCh38 |
| NC_000023.10:g.38535071A>T , CM000685.1:g.38535071A>T | GRCh37 |
| NC_000023.9:g.38420015A>T | NCBI36 |
| NG_009160.1:g.119341A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.554A>T MANE Select | ENSP00000367743.2:p.Asp185Val | |
| ENST00000286824.6:c.605A>T | ENSP00000286824.6:p.Asp202Val | |
| ENST00000378482.6:c.554A>T | ENSP00000367743.2:p.Asp185Val | |
| ENST00000419600.3:n.498A>T | ||
| ENST00000465127.1:c.644A>T | ENSP00000417050.1:p.Asp215Val | |
| ENST00000471410.5:c.*580A>T | ENSP00000419290.1:n.*580A>T | |
| ENST00000475216.5:c.*547A>T | ENSP00000418586.1:n.*547A>T | |
| NM_004615.3:c.554A>T | NP_004606.2:p.Asp185Val | |
| NM_004615.4:c.554A>T MANE Select | NP_004606.2:p.Asp185Val |