Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.164982312G>C , CM000665.2:g.164982312G>C | GRCh38 |
| NC_000003.11:g.164700100G>C , CM000665.1:g.164700100G>C | GRCh37 |
| NC_000003.10:g.166182794G>C | NCBI36 |
| NG_017043.1:g.101184C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.5346C>G MANE Select | ENSP00000264382.3:p.Val1782= | |
| ENST00000264382.7:c.5346C>G | ENSP00000264382.3:p.Val1782= | |
| NM_001041.3:c.5346C>G | NP_001032.2:p.Val1782= | |
| XM_011513078.1:c.5247C>G | XP_011511380.1:p.Val1749= | |
| XM_011513078.2:c.5247C>G | XP_011511380.1:p.Val1749= | |
| NM_001041.4:c.5346C>G MANE Select | NP_001032.2:p.Val1782= |