Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236012027C>A , CM000663.2:g.236012027C>A | GRCh38 |
| NC_000001.10:g.236175327C>A , CM000663.1:g.236175327C>A | GRCh37 |
| NC_000001.9:g.234241950C>A | NCBI36 |
| NG_033228.1:g.58155G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002508.3:c.2421G>T MANE Select | NP_002499.2:p.Gln807His |
| ENST00000264187.7:c.2421G>T MANE Select | ENSP00000264187.6:p.Gln807His |
| NM_002508.2:c.2421G>T | NP_002499.2:p.Gln807His |
| ENST00000264187.6:c.2421G>T | ENSP00000264187.6:p.Gln807His |
| ENST00000366595.7:c.2128+12043G>T | ENSP00000355554.3:n.2128+12043G>T |
| XM_011544195.1:c.2295G>T | XP_011542497.1:p.Gln765His |
| XM_011544195.3:c.2295G>T | XP_011542497.1:p.Gln765His |