Linked Data
ClinVar Variation Id:
392335
dbSNP Id:
rs201762017
ExAC:
X:153577858 C / T
gnomAD v2:
X-153577858-C-T
gnomAD v3:
X-154349490-C-T
gnomAD v4:
X-154349490-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154349490C>T , CM000685.2:g.154349490C>T | GRCh38 |
| NC_000023.10:g.153577858C>T , CM000685.1:g.153577858C>T | GRCh37 |
| NC_000023.9:g.153231052C>T | NCBI36 |
| NG_011506.1:g.30149G>A | |
| NG_011506.2:g.30149G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7604G>A | ENSP00000353467.4:p.Cys2535Tyr | |
| ENST00000369850.10:c.7628G>A MANE Select | ENSP00000358866.3:p.Cys2543Tyr | |
| ENST00000369856.8:c.7547G>A | ENSP00000358872.4:p.Cys2516Tyr | |
| ENST00000422373.6:c.4409G>A | ENSP00000416926.2:p.Cys1470Tyr | |
| ENST00000610817.5:c.7685G>A | ENSP00000480593.2:n.7685G>A | |
| ENST00000673639.2:c.280-800G>A | ||
| ENST00000676696.1:c.7907G>A | ENSP00000503392.1:n.7907G>A | |
| ENST00000678304.1:n.3346G>A | ||
| ENST00000344736.8:c.7508G>A | ENSP00000358863.3:p.Cys2503Tyr | |
| ENST00000360319.8:c.7604G>A | ENSP00000353467.4:p.Cys2535Tyr | |
| ENST00000369850.7:c.7628G>A | ENSP00000358866.3:p.Cys2543Tyr | |
| ENST00000369856.7:c.7547G>A | ENSP00000358872.4:p.Cys2516Tyr | |
| ENST00000420627.5:c.7584G>A | ENSP00000408921.1:n.7584G>A | |
| ENST00000422373.5:c.7604G>A | ENSP00000416926.1:p.Cys2535Tyr | |
| ENST00000462590.1:n.783G>A | ||
| ENST00000490936.5:n.4857G>A | ||
| ENST00000498411.1:n.68-660G>A | ||
| ENST00000498491.5:n.669G>A | ||
| ENST00000610817.4:c.6632G>A | ENSP00000480593.1:p.Cys2211Tyr | |
| NM_001110556.1:c.7628G>A | NP_001104026.1:p.Cys2543Tyr | |
| NM_001456.3:c.7604G>A | NP_001447.2:p.Cys2535Tyr | |
| XM_011531127.1:c.7532G>A | XP_011529429.1:p.Cys2511Tyr | |
| XM_011531128.1:c.7508G>A | XP_011529430.1:p.Cys2503Tyr | |
| XM_011531129.1:c.7454G>A | XP_011529431.1:p.Cys2485Tyr | |
| XM_011531130.1:c.7430G>A | XP_011529432.1:p.Cys2477Tyr | |
| XM_011531131.1:c.7427G>A | XP_011529433.1:p.Cys2476Tyr | |
| NM_001110556.2:c.7628G>A MANE Select | NP_001104026.1:p.Cys2543Tyr | |
| NM_001456.4:c.7604G>A | NP_001447.2:p.Cys2535Tyr |