Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110187321T>G , CM000675.2:g.110187321T>G | GRCh38 |
| NC_000013.10:g.110839668T>G , CM000675.1:g.110839668T>G | GRCh37 |
| NC_000013.9:g.109637669T>G | NCBI36 |
| NG_011544.2:g.124829A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001845.6:c.1545A>C MANE Select | NP_001836.3:p.Gln515His |
| ENST00000375820.10:c.1545A>C MANE Select | ENSP00000364979.4:p.Gln515His |
| NM_001845.5:c.1545A>C | NP_001836.3:p.Gln515His |
| ENST00000375820.8:c.1545A>C | ENSP00000364979.4:p.Gln515His |
| ENST00000649738.1:n.1675A>C | |
| XM_011521048.1:c.1353A>C | XP_011519350.1:p.Gln451His |
| XM_011521048.2:c.1353A>C | XP_011519350.1:p.Gln451His |