Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.124976873A>G , CM000670.2:g.124976873A>G | GRCh38 |
| NC_000008.10:g.125989115A>G , CM000670.1:g.125989115A>G | GRCh37 |
| NC_000008.9:g.126058296A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152412.3:c.605A>G MANE Select | NP_689625.2:p.His202Arg |
| ENST00000319286.6:c.605A>G MANE Select | ENSP00000319305.5:p.His202Arg |
| NM_152412.2:c.605A>G | NP_689625.2:p.His202Arg |
| ENST00000319286.5:c.605A>G | ENSP00000319305.5:p.His202Arg |
| XM_011516828.1:c.728A>G | XP_011515130.1:p.His243Arg |
| XM_011516829.1:c.605A>G | XP_011515131.1:p.His202Arg |
| XM_011516830.1:c.605A>G | XP_011515132.1:p.His202Arg |