Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52033542G>C , CM000666.2:g.52033542G>C | GRCh38 |
| NC_000004.11:g.52899708G>C , CM000666.1:g.52899708G>C | GRCh37 |
| NC_000004.10:g.52594465G>C | NCBI36 |
| NG_008891.1:g.9778C>G , LRG_204:g.9778C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.132C>G MANE Select | NP_000223.1:p.Tyr44Ter |
| ENST00000381431.10:c.132C>G MANE Select | ENSP00000370839.6:p.Tyr44Ter |
| NM_000232.4:c.132C>G , LRG_204t1:c.132C>G | NP_000223.1:p.Tyr44Ter |
| ENST00000381431.9:c.132C>G | ENSP00000370839.5:p.Tyr44Ter |
| ENST00000506357.5:c.118C>G | |
| ENST00000514133.1:c.99C>G | ENSP00000425818.1:p.Tyr33Ter |
| XM_011534403.1:c.34-3679C>G | XP_011532705.1:n.34-3679C>G |