Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71110073C>T , CM000664.2:g.71110073C>T | GRCh38 |
| NC_000002.11:g.71337203C>T , CM000664.1:g.71337203C>T | GRCh37 |
| NC_000002.10:g.71190711C>T | NCBI36 |
| NG_008977.1:g.25192G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.428G>A MANE Select | ENSP00000244217.5:p.Arg143His | |
| ENST00000244217.5:c.428G>A | ENSP00000244217.5:p.Arg143His | |
| ENST00000413592.5:c.134G>A | ENSP00000391140.1:p.Arg45His | |
| ENST00000462609.2:n.374G>A | ||
| NM_032601.3:c.428G>A | NP_115990.3:p.Arg143His | |
| XM_005264613.2:c.266G>A | XP_005264670.1:p.Arg89His | |
| XR_939729.1:n.593G>A | ||
| XR_939729.2:n.593G>A | ||
| NM_032601.4:c.428G>A MANE Select | NP_115990.3:p.Arg143His |