ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000371748 (MANE Select)
0.918
ENST00000371746
0.918
ENST00000325195
0.918
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136199800T>C , CM000671.2:g.136199800T>C | GRCh38 |
| NC_000009.11:g.139091646T>C , CM000671.1:g.139091646T>C | GRCh37 |
| NC_000009.10:g.138231467T>C | NCBI36 |
| NG_008097.1:g.10310A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371746.9:c.347A>G | ENSP00000360811.3:p.Tyr116Cys | |
| ENST00000371748.10:c.332A>G MANE Select | ENSP00000360813.4:p.Tyr111Cys | |
| ENST00000645419.1:n.1157A>G | ||
| ENST00000371746.7:c.347A>G | ENSP00000360811.3:p.Tyr116Cys | |
| ENST00000371748.9:c.332A>G | ENSP00000360813.4:p.Tyr111Cys | |
| ENST00000619587.1:c.299A>G | ENSP00000483080.1:p.Tyr100Cys | |
| NM_014564.3:c.347A>G | NP_055379.1:p.Tyr116Cys | |
| NM_178138.4:c.332A>G | NP_835258.1:p.Tyr111Cys | |
| XM_005263410.1:c.299A>G | XP_005263467.1:p.Tyr100Cys | |
| NM_001363746.1:c.299A>G | NP_001350675.1:p.Tyr100Cys | |
| NM_014564.4:c.347A>G | NP_055379.1:p.Tyr116Cys | |
| NM_178138.5:c.332A>G | NP_835258.1:p.Tyr111Cys | |
| XM_017015168.1:c.260A>G | XP_016870657.1:p.Tyr87Cys | |
| NM_178138.6:c.332A>G MANE Select | NP_835258.1:p.Tyr111Cys | |
| NM_014564.5:c.347A>G | NP_055379.1:p.Tyr116Cys |