Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77922339C>A , CM000671.2:g.77922339C>A | GRCh38 |
| NC_000009.11:g.80537255C>A , CM000671.1:g.80537255C>A | GRCh37 |
| NC_000009.10:g.79727075C>A | NCBI36 |
| NG_027904.2:g.113965G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002072.5:c.143G>T MANE Select | NP_002063.2:p.Gly48Val |
| ENST00000286548.9:c.143G>T MANE Select | ENSP00000286548.4:p.Gly48Val |
| NM_002072.4:c.143G>T | NP_002063.2:p.Gly48Val |
| ENST00000286548.8:c.143G>T | ENSP00000286548.4:p.Gly48Val |
| ENST00000411677.1:c.56G>T | ENSP00000391501.1:p.Gly19Val |
| XM_017014628.2:c.-32G>T | XP_016870117.1:n.-32G>T |