Linked Data
ClinVar Variation Id:
31630
ClinVar RCV Id:
RCV000024328
dbSNP Id:
rs387907175
PubMed:
PMID:22025892
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74505039C>T , CM000676.2:g.74505039C>T | GRCh38 |
| NC_000014.8:g.74971742C>T , CM000676.1:g.74971742C>T | GRCh37 |
| NC_000014.7:g.74041495C>T | NCBI36 |
| NG_021486.1:g.112293G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261978.9:c.4313G>A MANE Select | ENSP00000261978.4:p.Cys1438Tyr | |
| ENST00000261978.8:c.4313G>A | ENSP00000261978.4:p.Cys1438Tyr | |
| ENST00000553939.5:c.4313G>A | ENSP00000452110.1:p.Cys1438Tyr | |
| ENST00000556690.5:c.4181G>A | ENSP00000451477.1:p.Cys1394Tyr | |
| NM_000428.2:c.4313G>A | NP_000419.1:p.Cys1438Tyr | |
| XM_011536765.1:c.3932G>A | XP_011535067.1:p.Cys1311Tyr | |
| XM_011536766.1:c.3854G>A | XP_011535068.1:p.Cys1285Tyr | |
| XM_011536767.1:c.3830G>A | XP_011535069.1:p.Cys1277Tyr | |
| XM_011536765.2:c.3932G>A | XP_011535067.1:p.Cys1311Tyr | |
| NM_000428.3:c.4313G>A MANE Select | NP_000419.1:p.Cys1438Tyr |