Linked Data
ClinVar Variation Id:
705818
dbSNP Id:
rs200564773
ExAC:
X:38262912 C / T
gnomAD v2:
X-38262912-C-T
gnomAD v3:
X-38403659-C-T
gnomAD v4:
X-38403659-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38403659C>T , CM000685.2:g.38403659C>T | GRCh38 |
| NC_000023.10:g.38262912C>T , CM000685.1:g.38262912C>T | GRCh37 |
| NC_000023.9:g.38147856C>T | NCBI36 |
| NG_008471.1:g.56177C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.582C>T MANE Select | ENSP00000039007.4:p.Ile194= | |
| ENST00000643344.1:c.*332C>T | ENSP00000496606.1:n.*332C>T | |
| ENST00000039007.4:c.582C>T | ENSP00000039007.4:p.Ile194= | |
| ENST00000465127.1:c.172-262462C>T | ENSP00000417050.1:n.172-262462C>T | |
| ENST00000488812.1:n.619C>T | ||
| NM_000531.5:c.582C>T | NP_000522.3:p.Ile194= | |
| XM_017029556.1:c.582C>T | XP_016885045.1:p.Ile194= | |
| NM_000531.6:c.582C>T MANE Select | NP_000522.3:p.Ile194= |