Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52706166C>A , CM000665.2:g.52706166C>A | GRCh38 |
| NC_000003.11:g.52740182C>A , CM000665.1:g.52740182C>A | GRCh37 |
| NC_000003.10:g.52715222C>A | NCBI36 |
| NG_053026.1:g.69784G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014041.5:c.-81C>A MANE Select | NP_054760.4:n.-81C>A |
| ENST00000619898.5:c.-81C>A MANE Select | ENSP00000478310.2:n.-81C>A |
| NM_014041.3:c.121C>A | NP_054760.3:p.Pro41Thr |
| NM_014041.4:c.-81C>A | NP_054760.4:n.-81C>A |
| ENST00000233025.11:c.121C>A | ENSP00000233025.7:p.Pro41Thr |
| ENST00000423431.5:c.-30-478C>A | ENSP00000391610.1:n.-30-478C>A |
| ENST00000448693.2:n.58C>A | |
| ENST00000474945.1:n.24C>A | |
| ENST00000602728.1:c.-81C>A | ENSP00000473265.1:n.-81C>A |
| ENST00000619898.4:c.121C>A | ENSP00000478310.1:p.Pro41Thr |