Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575934G>T , CM000670.2:g.86575934G>T | GRCh38 |
| NC_000008.10:g.87588162G>T , CM000670.1:g.87588162G>T | GRCh37 |
| NC_000008.9:g.87657278G>T | NCBI36 |
| NG_016980.1:g.172742C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2300C>A MANE Select | ENSP00000316605.5:p.Pro767His | |
| ENST00000681546.1:n.2120C>A | ||
| ENST00000681746.1:c.*711C>A | ENSP00000505959.1:n.*711C>A | |
| ENST00000320005.5:c.2300C>A | ENSP00000316605.5:p.Pro767His | |
| ENST00000517327.5:c.276+2755C>A | ENSP00000428329.1:n.276+2755C>A | |
| NM_019098.4:c.2300C>A | NP_061971.3:p.Pro767His | |
| XM_011517138.1:c.1886C>A | XP_011515440.1:p.Pro629His | |
| XM_011517138.2:c.1886C>A | XP_011515440.1:p.Pro629His | |
| NM_019098.5:c.2300C>A MANE Select | NP_061971.3:p.Pro767His |