Linked Data
ClinVar Variation Id:
435204
dbSNP Id:
rs201396725
ExAC:
X:153581029 C / T
gnomAD v2:
X-153581029-C-T
gnomAD v3:
X-154352661-C-T
gnomAD v4:
X-154352661-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352661C>T , CM000685.2:g.154352661C>T | GRCh38 |
| NC_000023.10:g.153581029C>T , CM000685.1:g.153581029C>T | GRCh37 |
| NC_000023.9:g.153234223C>T | NCBI36 |
| NG_011506.1:g.26978G>A | |
| NG_011506.2:g.26978G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6370G>A | ENSP00000353467.4:p.Val2124Met | |
| ENST00000369850.10:c.6394G>A MANE Select | ENSP00000358866.3:p.Val2132Met | |
| ENST00000369856.8:c.6313G>A | ENSP00000358872.4:p.Val2105Met | |
| ENST00000422373.6:c.3175G>A | ENSP00000416926.2:p.Val1059Met | |
| ENST00000610817.5:c.6451G>A | ENSP00000480593.2:n.6451G>A | |
| ENST00000673639.2:c.280-3971G>A | ||
| ENST00000676696.1:c.6673G>A | ENSP00000503392.1:n.6673G>A | |
| ENST00000678304.1:n.1573G>A | ||
| ENST00000344736.8:c.6274G>A | ENSP00000358863.3:p.Val2092Met | |
| ENST00000360319.8:c.6370G>A | ENSP00000353467.4:p.Val2124Met | |
| ENST00000369850.7:c.6394G>A | ENSP00000358866.3:p.Val2132Met | |
| ENST00000369856.7:c.6313G>A | ENSP00000358872.4:p.Val2105Met | |
| ENST00000415241.1:c.596G>A | ||
| ENST00000420627.5:c.6350G>A | ENSP00000408921.1:n.6350G>A | |
| ENST00000422373.5:c.6370G>A | ENSP00000416926.1:p.Val2124Met | |
| ENST00000444578.1:c.322+111G>A | ENSP00000397824.1:n.322+111G>A | |
| ENST00000466325.1:n.705G>A | ||
| ENST00000474358.5:n.27G>A | ||
| ENST00000490936.5:n.2383G>A | ||
| ENST00000498411.1:n.67+156G>A | ||
| ENST00000610817.4:c.5845-711G>A | ENSP00000480593.1:n.5845-711G>A | |
| NM_001110556.1:c.6394G>A | NP_001104026.1:p.Val2132Met | |
| NM_001456.3:c.6370G>A | NP_001447.2:p.Val2124Met | |
| XM_011531127.1:c.6298G>A | XP_011529429.1:p.Val2100Met | |
| XM_011531128.1:c.6274G>A | XP_011529430.1:p.Val2092Met | |
| XM_011531129.1:c.6220G>A | XP_011529431.1:p.Val2074Met | |
| XM_011531130.1:c.6196G>A | XP_011529432.1:p.Val2066Met | |
| XM_011531131.1:c.6193G>A | XP_011529433.1:p.Val2065Met | |
| NM_001110556.2:c.6394G>A MANE Select | NP_001104026.1:p.Val2132Met | |
| NM_001456.4:c.6370G>A | NP_001447.2:p.Val2124Met |