Linked Data
ClinVar Variation Id:
12471
ClinVar RCV Id:
RCV000013289
dbSNP Id:
rs121964848
ExAC:
12:6978037 G / A
gnomAD v2:
12-6978037-G-A
gnomAD v3:
12-6868873-G-A
gnomAD v4:
12-6868873-G-A
PubMed:
PMID:9338582
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6868873G>A , CM000674.2:g.6868873G>A | GRCh38 |
| NC_000012.11:g.6978037G>A , CM000674.1:g.6978037G>A | GRCh37 |
| NC_000012.10:g.6848298G>A | NCBI36 |
| NG_011948.1:g.6454G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396705.10:c.125G>A MANE Select | ENSP00000379933.4:p.Cys42Tyr | |
| ENST00000229270.8:c.236G>A | ENSP00000229270.4:p.Cys79Tyr | |
| ENST00000396705.9:c.125G>A | ENSP00000379933.4:p.Cys42Tyr | |
| ENST00000462761.5:c.-122G>A | ENSP00000475184.1:n.-122G>A | |
| ENST00000488464.6:c.-122G>A | ENSP00000475620.1:n.-122G>A | |
| ENST00000493987.5:c.-122G>A | ENSP00000475364.1:n.-122G>A | |
| ENST00000495834.1:c.-122G>A | ENSP00000475829.1:n.-122G>A | |
| ENST00000535434.5:c.-122G>A | ENSP00000443599.1:n.-122G>A | |
| ENST00000613953.4:c.236G>A | ENSP00000484435.1:p.Cys79Tyr | |
| NM_000365.5:c.125G>A | NP_000356.1:p.Cys42Tyr | |
| NM_001159287.1:c.236G>A | NP_001152759.1:p.Cys79Tyr | |
| NM_001258026.1:c.-122G>A | NP_001244955.1:n.-122G>A | |
| XR_002957378.1:n.858G>A | ||
| NM_000365.6:c.125G>A MANE Select | NP_000356.1:p.Cys42Tyr | |
| NM_001258026.2:c.-122G>A | NP_001244955.1:n.-122G>A |