Linked Data
ClinVar Variation Id:
213479
dbSNP Id:
rs781920955
ExAC:
X:153581507 C / T
gnomAD v2:
X-153581507-C-T
gnomAD v3:
X-154353139-C-T
gnomAD v4:
X-154353139-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154353139C>T , CM000685.2:g.154353139C>T | GRCh38 |
| NC_000023.10:g.153581507C>T , CM000685.1:g.153581507C>T | GRCh37 |
| NC_000023.9:g.153234701C>T | NCBI36 |
| NG_011506.1:g.26500G>A | |
| NG_011506.2:g.26500G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6064G>A | ENSP00000353467.4:p.Val2022Met | |
| ENST00000369850.10:c.6088G>A MANE Select | ENSP00000358866.3:p.Val2030Met | |
| ENST00000369856.8:c.6007G>A | ENSP00000358872.4:p.Val2003Met | |
| ENST00000422373.6:c.3161-464G>A | ENSP00000416926.2:n.3161-464G>A | |
| ENST00000610817.5:c.6145G>A | ENSP00000480593.2:n.6145G>A | |
| ENST00000673639.2:c.280-4449G>A | ||
| ENST00000676696.1:c.6367G>A | ENSP00000503392.1:n.6367G>A | |
| ENST00000678304.1:n.1267G>A | ||
| ENST00000344736.8:c.5968G>A | ENSP00000358863.3:p.Val1990Met | |
| ENST00000360319.8:c.6064G>A | ENSP00000353467.4:p.Val2022Met | |
| ENST00000369850.7:c.6088G>A | ENSP00000358866.3:p.Val2030Met | |
| ENST00000369856.7:c.6007G>A | ENSP00000358872.4:p.Val2003Met | |
| ENST00000415241.1:c.290G>A | ||
| ENST00000420627.5:c.6044G>A | ENSP00000408921.1:n.6044G>A | |
| ENST00000422373.5:c.6064G>A | ENSP00000416926.1:p.Val2022Met | |
| ENST00000444578.1:c.31G>A | ENSP00000397824.1:p.Val11Met | |
| ENST00000466325.1:n.227G>A | ||
| ENST00000490936.5:n.2077G>A | ||
| ENST00000610817.4:c.5844+254G>A | ENSP00000480593.1:n.5844+254G>A | |
| NM_001110556.1:c.6088G>A | NP_001104026.1:p.Val2030Met | |
| NM_001456.3:c.6064G>A | NP_001447.2:p.Val2022Met | |
| XM_011531127.1:c.5992G>A | XP_011529429.1:p.Val1998Met | |
| XM_011531128.1:c.5968G>A | XP_011529430.1:p.Val1990Met | |
| XM_011531129.1:c.5914G>A | XP_011529431.1:p.Val1972Met | |
| XM_011531130.1:c.5890G>A | XP_011529432.1:p.Val1964Met | |
| XM_011531131.1:c.5887G>A | XP_011529433.1:p.Val1963Met | |
| NM_001110556.2:c.6088G>A MANE Select | NP_001104026.1:p.Val2030Met | |
| NM_001456.4:c.6064G>A | NP_001447.2:p.Val2022Met |