Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66002517T>G , CM000673.2:g.66002517T>G | GRCh38 |
| NC_000011.9:g.65769988T>G , CM000673.1:g.65769988T>G | GRCh37 |
| NC_000011.8:g.65526564T>G | NCBI36 |
| NG_031874.1:g.5439T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003860.4:c.-70T>G MANE Select | NP_003851.1:n.-70T>G |
| ENST00000312175.7:c.-70T>G MANE Select | ENSP00000310275.2:n.-70T>G |
| NM_001143985.1:c.-17+4T>G | NP_001137457.1:n.-17+4T>G |
| NM_003860.3:c.-70T>G | NP_003851.1:n.-70T>G |
| ENST00000312175.6:c.-70T>G | ENSP00000310275.2:n.-70T>G |
| ENST00000445560.6:c.-17+4T>G | ENSP00000416128.2:n.-17+4T>G |
| ENST00000524628.1:n.38T>G | |
| ENST00000524663.1:n.198+4T>G | |
| ENST00000530204.1:c.-244+4T>G | ENSP00000431785.1:n.-244+4T>G |