Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55221014A>C , CM000667.2:g.55221014A>C | GRCh38 |
| NC_000005.9:g.54516842A>C , CM000667.1:g.54516842A>C | GRCh37 |
| NC_000005.8:g.54552599A>C | NCBI36 |
| NG_051620.1:g.11302T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001190787.3:c.717+2T>G MANE Select | NP_001177716.1:n.717+2T>G |
| ENST00000513312.3:c.717+2T>G MANE Select | ENSP00000426359.1:n.717+2T>G |
| NM_001190787.1:c.717+2T>G | NP_001177716.1:n.717+2T>G |
| ENST00000513312.1:c.717+2T>G | ENSP00000426359.1:n.717+2T>G |
| ENST00000513468.5:c.*181+2T>G | ENSP00000422165.1:n.*181+2T>G |
| XM_017009439.2:c.324+2T>G | XP_016864928.1:n.324+2T>G |