Linked Data
ClinVar Variation Id:
11630
dbSNP Id:
rs104894951
ExAC:
X:38535032 C / A
gnomAD v2:
X-38535032-C-A
gnomAD v3:
X-38675778-C-A
gnomAD v4:
X-38675778-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675778C>A , CM000685.2:g.38675778C>A | GRCh38 |
| NC_000023.10:g.38535032C>A , CM000685.1:g.38535032C>A | GRCh37 |
| NC_000023.9:g.38419976C>A | NCBI36 |
| NG_009160.1:g.119302C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378482.7:c.515C>A MANE Select | ENSP00000367743.2:p.Pro172His | |
| ENST00000286824.6:c.566C>A | ENSP00000286824.6:p.Pro189His | |
| ENST00000378482.6:c.515C>A | ENSP00000367743.2:p.Pro172His | |
| ENST00000419600.3:n.459C>A | ||
| ENST00000465127.1:c.605C>A | ENSP00000417050.1:p.Pro202His | |
| ENST00000471410.5:c.*541C>A | ENSP00000419290.1:n.*541C>A | |
| ENST00000475216.5:c.*508C>A | ENSP00000418586.1:n.*508C>A | |
| ENST00000488893.5:n.698C>A | ||
| NM_004615.3:c.515C>A | NP_004606.2:p.Pro172His | |
| NM_004615.4:c.515C>A MANE Select | NP_004606.2:p.Pro172His |