Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74705254C>G , CM000667.2:g.74705254C>G | GRCh38 |
| NC_000005.9:g.74001079C>G , CM000667.1:g.74001079C>G | GRCh37 |
| NC_000005.8:g.74036835C>G | NCBI36 |
| NG_009770.1:g.25111C>G | |
| NG_009770.2:g.70232C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.705C>G MANE Select | NP_000512.2:p.His235Gln |
| ENST00000261416.12:c.705C>G MANE Select | ENSP00000261416.7:p.His235Gln |
| NM_000521.3:c.705C>G | NP_000512.1:p.His235Gln |
| NM_001292004.1:c.30C>G | NP_001278933.1:p.His10Gln |
| NM_001292004.2:c.30C>G | NP_001278933.1:p.His10Gln |
| ENST00000261416.11:c.705C>G | ENSP00000261416.7:p.His235Gln |
| ENST00000510820.1:n.424C>G | |
| ENST00000511181.5:c.30C>G | ENSP00000426285.1:p.His10Gln |
| ENST00000513079.5:n.770C>G |