Linked Data
ClinVar Variation Id:
465147
dbSNP Id:
rs149024147
ExAC:
X:152956908 G / A
gnomAD v2:
X-152956908-G-A
gnomAD v3:
X-153691453-G-A
gnomAD v4:
X-153691453-G-A
ERepo:
CA10549204/MONDO:0010305/027
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153691453G>A , CM000685.2:g.153691453G>A | GRCh38 |
| NC_000023.10:g.152956908G>A , CM000685.1:g.152956908G>A | GRCh37 |
| NC_000023.9:g.152610102G>A | NCBI36 |
| NG_012016.1:g.8157G>A | |
| NG_012016.2:g.8157G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.544G>A MANE Select | ENSP00000253122.5:p.Val182Met | |
| ENST00000675713.1:n.298G>A | ||
| ENST00000253122.9:c.544G>A | ENSP00000253122.5:p.Val182Met | |
| ENST00000430077.6:c.199G>A | ENSP00000403041.2:p.Val67Met | |
| ENST00000466243.1:n.336G>A | ||
| ENST00000467402.1:n.91G>A | ||
| NM_001142805.1:c.544G>A | NP_001136277.1:p.Val182Met | |
| NM_001142806.1:c.199G>A | NP_001136278.1:p.Val67Met | |
| NM_005629.3:c.544G>A | NP_005620.1:p.Val182Met | |
| NM_005629.4:c.544G>A MANE Select | NP_005620.1:p.Val182Met | |
| NM_001142805.2:c.544G>A | NP_001136277.1:p.Val182Met |