Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74755259A>G , CM000677.2:g.74755259A>G | GRCh38 |
| NC_000015.9:g.75047600A>G , CM000677.1:g.75047600A>G | GRCh37 |
| NC_000015.8:g.72834653A>G | NCBI36 |
| NG_008431.1:g.37718A>G | |
| NG_008431.2:g.37718A>G | |
| NG_061543.1:g.11415A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000761.5:c.*171A>G MANE Select | NP_000752.2:n.*171A>G |
| ENST00000343932.5:c.*171A>G MANE Select | ENSP00000342007.4:n.*171A>G |
| NM_000761.4:c.*171A>G | NP_000752.2:n.*171A>G |
| ENST00000343932.4:c.*171A>G | ENSP00000342007.4:n.*171A>G |