Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89179499C>G , CM000678.2:g.89179499C>G | GRCh38 |
| NC_000016.9:g.89245907C>G , CM000678.1:g.89245907C>G | GRCh37 |
| NC_000016.8:g.87773408C>G | NCBI36 |
| NG_012055.1:g.12745C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289746.3:c.126C>G MANE Select | ENSP00000289746.2:p.Arg42= | |
| ENST00000289746.2:c.126C>G | ENSP00000289746.2:p.Arg42= | |
| ENST00000521087.5:n.191C>G | ||
| ENST00000524089.1:n.191C>G | ||
| NM_004933.2:c.126C>G | NP_004924.1:p.Arg42= | |
| XM_011522806.1:c.126C>G | XP_011521108.1:p.Arg42= | |
| NM_004933.3:c.126C>G MANE Select | NP_004924.1:p.Arg42= |