Linked Data
ClinVar Variation Id:
97273
dbSNP Id:
rs72558415
gnomAD v4:
X-38403698-C-A
PubMed:
PMID:9452024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38403698C>A , CM000685.2:g.38403698C>A | GRCh38 |
| NC_000023.10:g.38262951C>A , CM000685.1:g.38262951C>A | GRCh37 |
| NC_000023.9:g.38147895C>A | NCBI36 |
| NG_008471.1:g.56216C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.621C>A MANE Select | ENSP00000039007.4:p.Ser207Arg | |
| ENST00000643344.1:c.*371C>A | ENSP00000496606.1:n.*371C>A | |
| ENST00000039007.4:c.621C>A | ENSP00000039007.4:p.Ser207Arg | |
| ENST00000465127.1:c.172-262423C>A | ENSP00000417050.1:n.172-262423C>A | |
| NM_000531.5:c.621C>A | NP_000522.3:p.Ser207Arg | |
| XM_017029556.1:c.621C>A | XP_016885045.1:p.Ser207Arg | |
| NM_000531.6:c.621C>A MANE Select | NP_000522.3:p.Ser207Arg |