Linked Data
gnomAD v3:
X-38675806-T-C
gnomAD v4:
X-38675806-T-C
MyVariant Identifiers:
chrX:g.38535060T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675806T>C , CM000685.2:g.38675806T>C | GRCh38 |
| NC_000023.10:g.38535060T>C , CM000685.1:g.38535060T>C | GRCh37 |
| NC_000023.9:g.38420004T>C | NCBI36 |
| NG_009160.1:g.119330T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.543T>C MANE Select | ENSP00000367743.2:p.Cys181= | |
| ENST00000286824.6:c.594T>C | ENSP00000286824.6:p.Cys198= | |
| ENST00000378482.6:c.543T>C | ENSP00000367743.2:p.Cys181= | |
| ENST00000419600.3:n.487T>C | ||
| ENST00000465127.1:c.633T>C | ENSP00000417050.1:p.Cys211= | |
| ENST00000471410.5:c.*569T>C | ENSP00000419290.1:n.*569T>C | |
| ENST00000475216.5:c.*536T>C | ENSP00000418586.1:n.*536T>C | |
| ENST00000488893.5:n.726T>C | ||
| NM_004615.3:c.543T>C | NP_004606.2:p.Cys181= | |
| NM_004615.4:c.543T>C MANE Select | NP_004606.2:p.Cys181= |