Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77797577C>T , CM000671.2:g.77797577C>T | GRCh38 |
| NC_000009.11:g.80412493C>T , CM000671.1:g.80412493C>T | GRCh37 |
| NC_000009.10:g.79602313C>T | NCBI36 |
| NG_027904.2:g.238727G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002072.5:c.548G>A MANE Select | NP_002063.2:p.Arg183Gln |
| ENST00000286548.9:c.548G>A MANE Select | ENSP00000286548.4:p.Arg183Gln |
| NM_002072.4:c.548G>A | NP_002063.2:p.Arg183Gln |
| ENST00000286548.8:c.548G>A | ENSP00000286548.4:p.Arg183Gln |
| ENST00000411677.1:c.461G>A | ENSP00000391501.1:p.Arg154Gln |
| XM_017014628.2:c.374G>A | XP_016870117.1:p.Arg125Gln |