dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3605586G>T , CM000679.2:g.3605586G>T | GRCh38 |
| NC_000017.10:g.3508880G>T , CM000679.1:g.3508880G>T | GRCh37 |
| NC_000017.9:g.3455629G>T | NCBI36 |
| NG_029716.1:g.8826C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000572705.2:c.-34+2841C>A MANE Select | ENSP00000459962.1:n.-34+2841C>A | |
| ENST00000572705.1:c.-34+2841C>A | ENSP00000459962.1:n.-34+2841C>A | |
| ENST00000572919.1:c.*1251+3723C>A | ENSP00000461416.1:n.*1251+3723C>A | |
| NM_080704.3:c.-34+2841C>A | NP_542435.2:n.-34+2841C>A | |
| NM_080704.4:c.-34+2841C>A MANE Select | NP_542435.2:n.-34+2841C>A |