Linked Data
ClinVar Variation Id:
405449
dbSNP Id:
rs370202395
ExAC:
X:153588640 C / T
gnomAD v2:
X-153588640-C-T
gnomAD v3:
X-154360272-C-T
gnomAD v4:
X-154360272-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154360272C>T , CM000685.2:g.154360272C>T | GRCh38 |
| NC_000023.10:g.153588640C>T , CM000685.1:g.153588640C>T | GRCh37 |
| NC_000023.9:g.153241834C>T | NCBI36 |
| NG_011506.1:g.19367G>A | |
| NG_011506.2:g.19367G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.3523G>A | ENSP00000353467.4:p.Ala1175Thr | |
| ENST00000369850.10:c.3523G>A MANE Select | ENSP00000358866.3:p.Ala1175Thr | |
| ENST00000369856.8:c.3442G>A | ENSP00000358872.4:p.Ala1148Thr | |
| ENST00000422373.6:c.3160+1083G>A | ENSP00000416926.2:n.3160+1083G>A | |
| ENST00000610817.5:c.3580G>A | ENSP00000480593.2:n.3580G>A | |
| ENST00000673639.2:c.279+5164G>A | ||
| ENST00000676696.1:c.3802G>A | ENSP00000503392.1:n.3802G>A | |
| ENST00000344736.8:c.3523G>A | ENSP00000358863.3:p.Ala1175Thr | |
| ENST00000360319.8:c.3523G>A | ENSP00000353467.4:p.Ala1175Thr | |
| ENST00000369850.7:c.3523G>A | ENSP00000358866.3:p.Ala1175Thr | |
| ENST00000369856.7:c.3442G>A | ENSP00000358872.4:p.Ala1148Thr | |
| ENST00000420627.5:c.3479G>A | ENSP00000408921.1:n.3479G>A | |
| ENST00000422373.5:c.3523G>A | ENSP00000416926.1:p.Ala1175Thr | |
| ENST00000610817.4:c.3442G>A | ENSP00000480593.1:p.Ala1148Thr | |
| NM_001110556.1:c.3523G>A | NP_001104026.1:p.Ala1175Thr | |
| NM_001456.3:c.3523G>A | NP_001447.2:p.Ala1175Thr | |
| XM_011531127.1:c.3523G>A | XP_011529429.1:p.Ala1175Thr | |
| XM_011531128.1:c.3523G>A | XP_011529430.1:p.Ala1175Thr | |
| XM_011531129.1:c.3523G>A | XP_011529431.1:p.Ala1175Thr | |
| XM_011531130.1:c.3523G>A | XP_011529432.1:p.Ala1175Thr | |
| XM_011531131.1:c.3322G>A | XP_011529433.1:p.Ala1108Thr | |
| NM_001110556.2:c.3523G>A MANE Select | NP_001104026.1:p.Ala1175Thr | |
| NM_001456.4:c.3523G>A | NP_001447.2:p.Ala1175Thr |