Linked Data
ClinVar Variation Id:
6379
ClinVar RCV Id:
RCV000006751
dbSNP Id:
rs121908899
gnomAD v2:
6-112386045-G-A
gnomAD v3:
6-112064842-G-A
gnomAD v4:
6-112064842-G-A
PubMed:
PMID:10471507
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112064842G>A , CM000668.2:g.112064842G>A | GRCh38 |
| NC_000006.11:g.112386045G>A , CM000668.1:g.112386045G>A | GRCh37 |
| NC_000006.10:g.112492738G>A | NCBI36 |
| NG_011748.1:g.15768G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.434G>A MANE Select | ENSP00000357655.4:p.Cys145Tyr | |
| ENST00000639360.1:c.335G>A | ENSP00000491774.1:p.Cys112Tyr | |
| ENST00000230529.9:c.434G>A | ENSP00000230529.5:p.Cys145Tyr | |
| ENST00000361714.5:c.434G>A | ENSP00000354734.2:p.Cys145Tyr | |
| ENST00000368663.4:c.434G>A | ENSP00000357652.4:p.Cys145Tyr | |
| ENST00000368664.7:c.488G>A | ENSP00000357653.3:p.Cys163Tyr | |
| ENST00000368666.6:c.488G>A | ENSP00000357655.3:p.Cys163Tyr | |
| ENST00000409166.5:c.-303G>A | ENSP00000386467.1:n.-303G>A | |
| ENST00000454589.5:c.434G>A | ENSP00000395928.1:p.Cys145Tyr | |
| ENST00000604763.5:c.434G>A | ENSP00000473777.1:p.Cys145Tyr | |
| ENST00000613648.1:n.205G>A | ||
| ENST00000620524.3:n.365G>A | ||
| NM_003880.3:c.434G>A | NP_003871.1:p.Cys145Tyr | |
| NM_198239.1:c.488G>A | NP_937882.1:p.Cys163Tyr | |
| NR_125353.1:n.624G>A | ||
| NR_125354.1:n.544G>A | ||
| XM_011536220.1:c.434G>A | XP_011534522.1:p.Cys145Tyr | |
| XM_011536221.1:c.497G>A | XP_011534523.1:p.Cys166Tyr | |
| XM_011536222.1:c.516+56G>A | XP_011534524.1:n.516+56G>A | |
| XM_011536223.1:c.-149G>A | XP_011534525.1:n.-149G>A | |
| XM_011536222.2:c.441+56G>A | XP_011534524.2:n.441+56G>A | |
| XM_011536223.3:c.-149G>A | XP_011534525.1:n.-149G>A | |
| XR_001743705.1:n.972G>A | ||
| NM_003880.4:c.434G>A | NP_003871.1:p.Cys145Tyr | |
| NM_198239.2:c.434G>A MANE Select | NP_937882.2:p.Cys145Tyr | |
| NR_125353.2:n.688G>A | ||
| NR_125354.3:n.515G>A |