Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86122545G>C , CM000672.2:g.86122545G>C | GRCh38 |
| NC_000010.10:g.87882302G>C , CM000672.1:g.87882302G>C | GRCh37 |
| NC_000010.9:g.87872282G>C | NCBI36 |
| NG_011875.1:g.248949C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017551.3:c.726+16274C>G MANE Select | NP_060021.1:n.726+16274C>G |
| ENST00000327946.12:c.726+16274C>G MANE Select | ENSP00000330148.7:n.726+16274C>G |
| NM_017551.2:c.726+16274C>G | NP_060021.1:n.726+16274C>G |
| ENST00000327946.11:c.726+16274C>G | ENSP00000330148.7:n.726+16274C>G |
| ENST00000464741.2:c.726+16274C>G | ENSP00000433064.1:n.726+16274C>G |
| XM_011539720.1:c.726+16274C>G | XP_011538022.1:n.726+16274C>G |
| XM_011539720.2:c.726+16274C>G | XP_011538022.1:n.726+16274C>G |