Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26727806C>A , CM000664.2:g.26727806C>A | GRCh38 |
| NC_000002.11:g.26950674C>A , CM000664.1:g.26950674C>A | GRCh37 |
| NC_000002.10:g.26804178C>A | NCBI36 |
| NG_033884.1:g.40094C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302909.4:c.423C>A MANE Select | ENSP00000306275.3:p.His141Gln | |
| ENST00000302909.3:c.423C>A | ENSP00000306275.3:p.His141Gln | |
| ENST00000620977.1:c.54C>A | ENSP00000483136.1:p.His18Gln | |
| NM_002246.2:c.423C>A | NP_002237.1:p.His141Gln | |
| XM_005264293.1:c.93C>A | XP_005264350.1:p.His31Gln | |
| XM_005264293.2:c.93C>A | XP_005264350.1:p.His31Gln | |
| NM_002246.3:c.423C>A MANE Select | NP_002237.1:p.His141Gln |