ClinVar RCV:
ClinVar Variation:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.176496513A>G , CM000667.2:g.176496513A>G | GRCh38 |
| NC_000005.9:g.175923514A>G , CM000667.1:g.175923514A>G | GRCh37 |
| NC_000005.8:g.175856120A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261942.7:c.689A>G MANE Select | ENSP00000261942.6:p.Tyr230Cys | |
| ENST00000261942.6:c.689A>G | ENSP00000261942.6:p.Tyr230Cys | |
| ENST00000504983.1:n.399A>G | ||
| ENST00000513627.1:n.183A>G | ||
| NM_014613.2:c.689A>G | NP_055428.1:p.Tyr230Cys | |
| XM_011534475.1:c.554A>G | XP_011532777.1:p.Tyr185Cys | |
| XM_011534476.1:c.661+2238A>G | XP_011532778.1:n.661+2238A>G | |
| XM_011534475.3:c.554A>G | XP_011532777.1:p.Tyr185Cys | |
| NM_014613.3:c.689A>G MANE Select | NP_055428.1:p.Tyr230Cys |