Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123544G>T , CM000679.2:g.72123544G>T | GRCh38 |
| NC_000017.10:g.70119685G>T , CM000679.1:g.70119685G>T | GRCh37 |
| NC_000017.9:g.67631280G>T | NCBI36 |
| NG_012490.1:g.7525G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.687G>T MANE Select | ENSP00000245479.2:p.Gly229= | |
| ENST00000245479.2:c.687G>T | ENSP00000245479.2:p.Gly229= | |
| NM_000346.3:c.687G>T | NP_000337.1:p.Gly229= | |
| NM_000346.4:c.687G>T MANE Select | NP_000337.1:p.Gly229= |