Linked Data
ClinVar Variation Id:
528351
dbSNP Id:
rs141110958
ExAC:
X:153008711 C / T
gnomAD v2:
X-153008711-C-T
gnomAD v3:
X-153743257-C-T
gnomAD v4:
X-153743257-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153743257C>T , CM000685.2:g.153743257C>T | GRCh38 |
| NC_000023.10:g.153008711C>T , CM000685.1:g.153008711C>T | GRCh37 |
| NC_000023.9:g.152661905C>T | NCBI36 |
| NG_009022.2:g.23390C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1902C>T MANE Select | ENSP00000218104.3:p.Ala634= | |
| ENST00000218104.5:c.1902C>T | ENSP00000218104.3:p.Ala634= | |
| NM_000033.3:c.1902C>T | NP_000024.2:p.Ala634= | |
| XR_938507.1:n.2374C>T | ||
| XR_938507.2:n.2374C>T | ||
| NM_000033.4:c.1902C>T MANE Select | NP_000024.2:p.Ala634= |