Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633330T>A , CM000665.2:g.120633330T>A | GRCh38 |
| NC_000003.11:g.120352177T>A , CM000665.1:g.120352177T>A | GRCh37 |
| NC_000003.10:g.121834867T>A | NCBI36 |
| NG_011957.1:g.54152A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000187.4:c.1007-2A>T MANE Select | NP_000178.2:n.1007-2A>T |
| ENST00000283871.10:c.1007-2A>T MANE Select | ENSP00000283871.5:n.1007-2A>T |
| NM_000187.3:c.1007-2A>T | NP_000178.2:n.1007-2A>T |
| ENST00000283871.9:c.1007-2A>T | ENSP00000283871.5:n.1007-2A>T |
| ENST00000470321.1:n.347-2A>T | |
| ENST00000492108.5:c.286-2A>T | ENSP00000419838.1:n.286-2A>T |
| XM_005247412.1:c.782-2A>T | XP_005247469.1:n.782-2A>T |
| XM_005247412.2:c.782-2A>T | XP_005247469.1:n.782-2A>T |
| XM_017006277.2:c.584-2A>T | XP_016861766.1:n.584-2A>T |