Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17122797G>C , CM000672.2:g.17122797G>C | GRCh38 |
| NC_000010.10:g.17164796G>C , CM000672.1:g.17164796G>C | GRCh37 |
| NC_000010.9:g.17204802G>C | NCBI36 |
| NG_008967.1:g.12021C>G , LRG_540:g.12021C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001081.4:c.591C>G MANE Select | NP_001072.2:p.Tyr197Ter |
| ENST00000377833.10:c.591C>G MANE Select | ENSP00000367064.4:p.Tyr197Ter |
| NM_001081.3:c.591C>G , LRG_540t1:c.591C>G | NP_001072.2:p.Tyr197Ter |
| ENST00000377833.8:c.591C>G | ENSP00000367064.4:p.Tyr197Ter |
| ENST00000433666.5:c.252C>G | ENSP00000415970.1:p.Tyr84Ter |
| XM_011519708.1:c.591C>G | XP_011518010.1:p.Tyr197Ter |
| XM_011519708.2:c.591C>G | XP_011518010.1:p.Tyr197Ter |