Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225610G>T , CM000673.2:g.5225610G>T | GRCh38 |
| NC_000011.9:g.5246840G>T , CM000673.1:g.5246840G>T | GRCh37 |
| NC_000011.8:g.5203416G>T | NCBI36 |
| NG_000007.3:g.72006C>A | |
| NG_059281.1:g.6462C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.432C>A MANE Select | NP_000509.1:p.His144Gln |
| ENST00000335295.4:c.432C>A MANE Select | ENSP00000333994.3:p.His144Gln |
| NM_000518.4:c.432C>A | NP_000509.1:p.His144Gln |
| ENST00000633227.1:c.*248C>A | ENSP00000488004.1:n.*248C>A |
| ENST00000647020.1:c.432C>A | ENSP00000494175.1:p.His144Gln |