Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17023973C>A , CM000663.2:g.17023973C>A | GRCh38 |
| NC_000001.10:g.17350468C>A , CM000663.1:g.17350468C>A | GRCh37 |
| NC_000001.9:g.17223055C>A | NCBI36 |
| NG_012340.1:g.35198G>T , LRG_316:g.35198G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.471G>T | ENSP00000481376.2:p.Gln157His | |
| ENST00000491274.6:c.600G>T | ENSP00000480482.2:p.Gln200His | |
| ENST00000375499.8:c.642G>T MANE Select | ENSP00000364649.3:p.Gln214His | |
| ENST00000375499.7:c.642G>T | ENSP00000364649.3:p.Gln214His | |
| ENST00000485515.5:n.576G>T | ||
| ENST00000491274.5:c.600G>T | ENSP00000480482.1:p.Gln200His | |
| NM_003000.2:c.642G>T , LRG_316t1:c.642G>T | NP_002991.2:p.Gln214His | |
| NM_003000.3:c.642G>T MANE Select | NP_002991.2:p.Gln214His |