Linked Data
ClinVar Variation Id:
97293
ClinVar RCV Id:
RCV000083538
dbSNP Id:
rs72558429
gnomAD v4:
X-38408776-C-T
PubMed:
PMID:16786505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408776C>T , CM000685.2:g.38408776C>T | GRCh38 |
| NC_000023.10:g.38268029C>T , CM000685.1:g.38268029C>T | GRCh37 |
| NC_000023.9:g.38152973C>T | NCBI36 |
| NG_008471.1:g.61294C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.698C>T MANE Select | ENSP00000039007.4:p.Ala233Val | |
| ENST00000643344.1:c.*448C>T | ENSP00000496606.1:n.*448C>T | |
| ENST00000039007.4:c.698C>T | ENSP00000039007.4:p.Ala233Val | |
| ENST00000465127.1:c.172-257345C>T | ENSP00000417050.1:n.172-257345C>T | |
| NM_000531.5:c.698C>T | NP_000522.3:p.Ala233Val | |
| XM_017029556.1:c.698C>T | XP_016885045.1:p.Ala233Val | |
| NM_000531.6:c.698C>T MANE Select | NP_000522.3:p.Ala233Val |