Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.70030338A>G , CM000676.2:g.70030338A>G | GRCh38 |
| NC_000014.8:g.70497055A>G , CM000676.1:g.70497055A>G | GRCh37 |
| NC_000014.7:g.69566808A>G | NCBI36 |
| NG_028217.1:g.155942A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001034852.3:c.*80A>G MANE Select | NP_001030024.1:n.*80A>G |
| ENST00000361956.8:c.*80A>G MANE Select | ENSP00000355110.4:n.*80A>G |
| NM_001034852.2:c.*80A>G | NP_001030024.1:n.*80A>G |
| NM_022137.5:c.*80A>G | NP_071420.1:n.*80A>G |
| NM_022137.6:c.*80A>G | NP_071420.1:n.*80A>G |
| ENST00000361956.7:c.*80A>G | ENSP00000355110.3:n.*80A>G |
| ENST00000381280.4:c.*80A>G | ENSP00000370680.4:n.*80A>G |
| XM_005267995.1:c.*80A>G | XP_005268052.1:n.*80A>G |
| XM_005267996.1:c.*80A>G | XP_005268053.1:n.*80A>G |