Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.893075A>G , CM000667.2:g.893075A>G | GRCh38 |
| NC_000005.9:g.893190A>G , CM000667.1:g.893190A>G | GRCh37 |
| NC_000005.8:g.946190A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004237.4:c.77A>G MANE Select | NP_004228.1:p.His26Arg |
| ENST00000166345.8:c.77A>G MANE Select | ENSP00000166345.3:p.His26Arg |
| NM_001166260.1:c.77A>G | NP_001159732.1:p.His26Arg |
| NM_001166260.2:c.77A>G | NP_001159732.1:p.His26Arg |
| NM_004237.3:c.77A>G | NP_004228.1:p.His26Arg |
| ENST00000166345.7:c.77A>G | ENSP00000166345.3:p.His26Arg |
| ENST00000508456.1:n.51A>G | |
| ENST00000512024.5:n.192A>G | |
| XM_011514163.1:c.77A>G | XP_011512465.1:p.His26Arg |
| XM_011514163.2:c.77A>G | XP_011512465.1:p.His26Arg |