Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23645669C>T , CM000677.2:g.23645669C>T | GRCh38 |
| NC_000015.9:g.23890816C>T , CM000677.1:g.23890816C>T | GRCh37 |
| NC_000015.8:g.21441909C>T | NCBI36 |
| NG_016776.1:g.7178G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650528.1:c.2074G>A MANE Select | ENSP00000497810.1:p.Val692Ile | |
| ENST00000532292.2:c.2074G>A | ENSP00000433433.2:p.Val692Ile | |
| NM_019066.4:c.2074G>A | NP_061939.3:p.Val692Ile | |
| NM_019066.5:c.2074G>A MANE Select | NP_061939.3:p.Val692Ile |