Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77815762T>C , CM000671.2:g.77815762T>C | GRCh38 |
| NC_000009.11:g.80430678T>C , CM000671.1:g.80430678T>C | GRCh37 |
| NC_000009.10:g.79620498T>C | NCBI36 |
| NG_027904.2:g.220542A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002072.5:c.330A>G MANE Select | NP_002063.2:p.Ala110= |
| ENST00000286548.9:c.330A>G MANE Select | ENSP00000286548.4:p.Ala110= |
| NM_002072.4:c.330A>G | NP_002063.2:p.Ala110= |
| ENST00000286548.8:c.330A>G | ENSP00000286548.4:p.Ala110= |
| ENST00000411677.1:c.243A>G | ENSP00000391501.1:p.Ala81= |
| XM_017014628.2:c.156A>G | XP_016870117.1:p.Ala52= |