Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88719719A>C , CM000678.2:g.88719719A>C | GRCh38 |
| NC_000016.9:g.88786127A>C , CM000678.1:g.88786127A>C | GRCh37 |
| NC_000016.8:g.87313628A>C | NCBI36 |
| NG_042229.1:g.70502T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.6326T>G MANE Select | ENSP00000301015.9:p.Phe2109Cys | |
| ENST00000466823.3:c.352T>G | ||
| ENST00000301015.13:c.6326T>G | ENSP00000301015.9:p.Phe2109Cys | |
| ENST00000419505.5:c.92T>G | ENSP00000406358.1:p.Phe31Cys | |
| ENST00000466823.2:c.352T>G | ||
| ENST00000495568.7:n.567T>G | ||
| ENST00000497793.2:n.481T>G | ||
| NM_001142864.2:c.6326T>G | NP_001136336.2:p.Phe2109Cys | |
| NM_001142864.3:c.6326T>G | NP_001136336.2:p.Phe2109Cys | |
| NM_001142864.4:c.6326T>G MANE Select | NP_001136336.2:p.Phe2109Cys |