Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44711513A>G , CM000683.2:g.44711513A>G | GRCh38 |
| NC_000021.8:g.46131428A>G , CM000683.1:g.46131428A>G | GRCh37 |
| NC_000021.7:g.44955856A>G | NCBI36 |
| NG_033806.1:g.5068T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144991.3:c.2T>C MANE Select | NP_659428.2:p.Met1Thr |
| ENST00000323084.9:c.2T>C MANE Select | ENSP00000321987.4:p.Met1Thr |
| NM_001272037.1:c.-265T>C | NP_001258966.1:n.-265T>C |
| NM_001272037.2:c.-265T>C | NP_001258966.1:n.-265T>C |
| NM_144991.2:c.2T>C | NP_659428.2:p.Met1Thr |
| ENST00000323084.8:c.2T>C | ENSP00000321987.4:p.Met1Thr |
| ENST00000613245.4:c.2T>C | ENSP00000478010.1:p.Met1Thr |
| ENST00000614657.4:c.-265T>C | ENSP00000482422.1:n.-265T>C |
| ENST00000642437.1:c.2T>C | ENSP00000496535.1:p.Met1Thr |