Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633259G>A , CM000665.2:g.120633259G>A | GRCh38 |
| NC_000003.11:g.120352106G>A , CM000665.1:g.120352106G>A | GRCh37 |
| NC_000003.10:g.121834796G>A | NCBI36 |
| NG_011957.1:g.54223C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000187.4:c.1076C>T MANE Select | NP_000178.2:p.Pro359Leu |
| ENST00000283871.10:c.1076C>T MANE Select | ENSP00000283871.5:p.Pro359Leu |
| NM_000187.3:c.1076C>T | NP_000178.2:p.Pro359Leu |
| ENST00000283871.9:c.1076C>T | ENSP00000283871.5:p.Pro359Leu |
| ENST00000470321.1:n.416C>T | |
| ENST00000492108.5:c.355C>T | ENSP00000419838.1:n.355C>T |
| XM_005247412.1:c.851C>T | XP_005247469.1:p.Pro284Leu |
| XM_005247412.2:c.851C>T | XP_005247469.1:p.Pro284Leu |
| XM_017006277.2:c.653C>T | XP_016861766.1:p.Pro218Leu |