Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6644508T>G , CM000674.2:g.6644508T>G | GRCh38 |
| NC_000012.11:g.6753674T>G , CM000674.1:g.6753674T>G | GRCh37 |
| NC_000012.10:g.6623935T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032489.3:c.573A>C MANE Select | NP_115878.2:p.Gln191His |
| ENST00000229243.7:c.573A>C MANE Select | ENSP00000229243.2:p.Gln191His |
| NM_032489.2:c.573A>C | NP_115878.2:p.Gln191His |
| ENST00000229243.6:c.573A>C | ENSP00000229243.2:p.Gln191His |
| ENST00000414226.6:c.476-2A>C | ENSP00000402725.2:n.476-2A>C |
| ENST00000535884.5:c.*175A>C | ENSP00000445262.1:n.*175A>C |
| ENST00000536350.5:c.573A>C | ENSP00000443153.1:p.Gln191His |
| ENST00000544352.1:n.801A>C |