Linked Data
ClinVar Variation Id:
1363109
ClinVar RCV Id:
RCV001934754
dbSNP Id:
rs755448967
COSMIC:
COSM4117388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38723526C>A , CM000665.2:g.38723526C>A | GRCh38 |
| NC_000003.11:g.38765017C>A , CM000665.1:g.38765017C>A | GRCh37 |
| NC_000003.10:g.38740021C>A | NCBI36 |
| NG_031891.2:g.75485G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.3256G>T MANE Select | ENSP00000390600.2:p.Gly1086Cys | |
| ENST00000643924.1:c.3253G>T | ENSP00000495595.1:p.Gly1085Cys | |
| ENST00000655275.1:c.3280G>T | ENSP00000499510.1:p.Gly1094Cys | |
| ENST00000449082.2:c.3256G>T | ENSP00000390600.2:p.Gly1086Cys | |
| NM_001293306.2:c.3253G>T | NP_001280235.2:p.Gly1085Cys | |
| NM_001293307.2:c.2962G>T | NP_001280236.2:p.Gly988Cys | |
| NM_006514.3:c.3256G>T | NP_006505.3:p.Gly1086Cys | |
| XM_005265371.2:c.3265G>T | XP_005265428.1:p.Gly1089Cys | |
| XM_011533993.1:c.3262G>T | XP_011532295.1:p.Gly1088Cys | |
| XM_011533994.1:c.2971G>T | XP_011532296.1:p.Gly991Cys | |
| XM_005265371.3:c.3265G>T | XP_005265428.1:p.Gly1089Cys | |
| XM_011533993.2:c.3262G>T | XP_011532295.1:p.Gly1088Cys | |
| XM_011533994.2:c.2971G>T | XP_011532296.1:p.Gly991Cys | |
| NM_006514.4:c.3256G>T MANE Select | NP_006505.4:p.Gly1086Cys |