Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72007531A>G , CM000672.2:g.72007531A>G | GRCh38 |
| NC_000010.10:g.73767289A>G , CM000672.1:g.73767289A>G | GRCh37 |
| NC_000010.9:g.73437295A>G | NCBI36 |
| NG_012635.1:g.48170A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004273.5:c.500A>G MANE Select | NP_004264.2:p.His167Arg |
| ENST00000373115.5:c.500A>G MANE Select | ENSP00000362207.4:p.His167Arg |
| NM_004273.4:c.500A>G | NP_004264.2:p.His167Arg |
| ENST00000373115.4:c.500A>G | ENSP00000362207.4:p.His167Arg |
| XM_006718075.2:c.500A>G | XP_006718138.1:p.His167Arg |
| XM_006718075.4:c.500A>G | XP_006718138.1:p.His167Arg |
| XM_011540369.1:c.500A>G | XP_011538671.1:p.His167Arg |
| XM_011540369.2:c.500A>G | XP_011538671.1:p.His167Arg |