Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101244603G>C , CM000665.2:g.101244603G>C | GRCh38 |
| NC_000003.11:g.100963447G>C , CM000665.1:g.100963447G>C | GRCh37 |
| NC_000003.10:g.102446137G>C | NCBI36 |
| NG_028284.1:g.80973C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.1728C>G MANE Select | NP_057331.2:p.Val576= |
| ENST00000193391.8:c.1728C>G MANE Select | ENSP00000193391.6:p.Val576= |
| NM_016247.3:c.1728C>G | NP_057331.2:p.Val576= |
| ENST00000193391.7:c.1728C>G | ENSP00000193391.6:p.Val576= |
| XM_011512871.1:c.1434C>G | XP_011511173.1:p.Val478= |
| XM_011512872.1:c.1317C>G | XP_011511174.1:p.Val439= |