Linked Data
MyVariant Identifiers:
chrX:g.38240671G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38381418G>C , CM000685.2:g.38381418G>C | GRCh38 |
| NC_000023.10:g.38240671G>C , CM000685.1:g.38240671G>C | GRCh37 |
| NC_000023.9:g.38125615G>C | NCBI36 |
| NG_008471.1:g.33936G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.375G>C MANE Select | ENSP00000039007.4:p.Thr125= | |
| ENST00000643344.1:c.*125G>C | ENSP00000496606.1:n.*125G>C | |
| ENST00000039007.4:c.375G>C | ENSP00000039007.4:p.Thr125= | |
| ENST00000465127.1:c.172-284703G>C | ENSP00000417050.1:n.172-284703G>C | |
| ENST00000488812.1:n.412G>C | ||
| NM_000531.5:c.375G>C | NP_000522.3:p.Thr125= | |
| XM_017029556.1:c.375G>C | XP_016885045.1:p.Thr125= | |
| NM_000531.6:c.375G>C MANE Select | NP_000522.3:p.Thr125= |