Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022648C>T , CM000663.2:g.17022648C>T | GRCh38 |
| NC_000001.10:g.17349143C>T , CM000663.1:g.17349143C>T | GRCh37 |
| NC_000001.9:g.17221730C>T | NCBI36 |
| NG_012340.1:g.36523G>A , LRG_316:g.36523G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003000.3:c.725G>A MANE Select | NP_002991.2:p.Arg242His |
| ENST00000375499.8:c.725G>A MANE Select | ENSP00000364649.3:p.Arg242His |
| NM_003000.2:c.725G>A , LRG_316t1:c.725G>A | NP_002991.2:p.Arg242His |
| ENST00000375499.7:c.725G>A | ENSP00000364649.3:p.Arg242His |
| ENST00000463045.3:c.554G>A | ENSP00000481376.2:p.Arg185His |
| ENST00000475049.5:n.150G>A | |
| ENST00000485092.5:n.389G>A | |
| ENST00000485515.5:n.659G>A | |
| ENST00000491274.6:c.683G>A | ENSP00000480482.2:p.Arg228His |