Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42574223C>A , CM000675.2:g.42574223C>A | GRCh38 |
| NC_000013.10:g.43148359C>A , CM000675.1:g.43148359C>A | GRCh37 |
| NC_000013.9:g.42046359C>A | NCBI36 |
| NG_008990.1:g.16488C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003701.4:c.-81C>A MANE Select | NP_003692.1:n.-81C>A |
| ENST00000398795.7:c.-81C>A MANE Select | ENSP00000381775.3:n.-81C>A |
| NM_003701.3:c.-81C>A | NP_003692.1:n.-81C>A |
| NM_033012.3:c.-1+2485C>A | NP_143026.1:n.-1+2485C>A |
| NM_033012.4:c.-1+2485C>A | NP_143026.1:n.-1+2485C>A |
| ENST00000358545.6:c.-1+2485C>A | ENSP00000351347.2:n.-1+2485C>A |
| ENST00000398795.6:c.-81C>A | ENSP00000381775.3:n.-81C>A |
| ENST00000405262.6:c.-1+2485C>A | ENSP00000384042.2:n.-1+2485C>A |