Linked Data
ClinVar Variation Id:
533587
dbSNP Id:
rs377518545
ExAC:
X:153577748 C / T
gnomAD v2:
X-153577748-C-T
gnomAD v3:
X-154349380-C-T
gnomAD v4:
X-154349380-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154349380C>T , CM000685.2:g.154349380C>T | GRCh38 |
| NC_000023.10:g.153577748C>T , CM000685.1:g.153577748C>T | GRCh37 |
| NC_000023.9:g.153230942C>T | NCBI36 |
| NG_011506.1:g.30259G>A | |
| NG_011506.2:g.30259G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7714G>A | ENSP00000353467.4:p.Val2572Ile | |
| ENST00000369850.10:c.7738G>A MANE Select | ENSP00000358866.3:p.Val2580Ile | |
| ENST00000369856.8:c.7657G>A | ENSP00000358872.4:p.Val2553Ile | |
| ENST00000422373.6:c.4519G>A | ENSP00000416926.2:p.Val1507Ile | |
| ENST00000610817.5:c.7795G>A | ENSP00000480593.2:n.7795G>A | |
| ENST00000673639.2:c.280-690G>A | ||
| ENST00000676696.1:c.8017G>A | ENSP00000503392.1:n.8017G>A | |
| ENST00000678304.1:n.3456G>A | ||
| ENST00000344736.8:c.7618G>A | ENSP00000358863.3:p.Val2540Ile | |
| ENST00000360319.8:c.7714G>A | ENSP00000353467.4:p.Val2572Ile | |
| ENST00000369850.7:c.7738G>A | ENSP00000358866.3:p.Val2580Ile | |
| ENST00000369856.7:c.7657G>A | ENSP00000358872.4:p.Val2553Ile | |
| ENST00000420627.5:c.7694G>A | ENSP00000408921.1:n.7694G>A | |
| ENST00000422373.5:c.7714G>A | ENSP00000416926.1:p.Val2572Ile | |
| ENST00000462590.1:n.893G>A | ||
| ENST00000490936.5:n.4967G>A | ||
| ENST00000498411.1:n.68-550G>A | ||
| ENST00000498491.5:n.779G>A | ||
| ENST00000610817.4:c.6742G>A | ENSP00000480593.1:p.Val2248Ile | |
| NM_001110556.1:c.7738G>A | NP_001104026.1:p.Val2580Ile | |
| NM_001456.3:c.7714G>A | NP_001447.2:p.Val2572Ile | |
| XM_011531127.1:c.7642G>A | XP_011529429.1:p.Val2548Ile | |
| XM_011531128.1:c.7618G>A | XP_011529430.1:p.Val2540Ile | |
| XM_011531129.1:c.7564G>A | XP_011529431.1:p.Val2522Ile | |
| XM_011531130.1:c.7540G>A | XP_011529432.1:p.Val2514Ile | |
| XM_011531131.1:c.7537G>A | XP_011529433.1:p.Val2513Ile | |
| NM_001110556.2:c.7738G>A MANE Select | NP_001104026.1:p.Val2580Ile | |
| NM_001456.4:c.7714G>A | NP_001447.2:p.Val2572Ile |