Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70435268T>C , CM000672.2:g.70435268T>C | GRCh38 |
| NC_000010.10:g.72195024T>C , CM000672.1:g.72195024T>C | GRCh37 |
| NC_000010.9:g.71865030T>C | NCBI36 |
| NG_012448.1:g.11442A>G | |
| NG_012448.2:g.17681A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287139.8:c.891+18A>G MANE Select | ENSP00000287139.3:n.891+18A>G | |
| ENST00000287139.7:c.891+18A>G | ENSP00000287139.3:n.891+18A>G | |
| ENST00000414871.1:c.726+18A>G | ENSP00000394468.1:n.726+18A>G | |
| NM_018055.4:c.891+18A>G | NP_060525.3:n.891+18A>G | |
| NM_001329906.1:c.492+18A>G | NP_001316835.1:n.492+18A>G | |
| XM_024448028.1:c.492+18A>G | XP_024303796.1:n.492+18A>G | |
| NM_018055.5:c.891+18A>G MANE Select | NP_060525.3:n.891+18A>G | |
| NM_001329906.2:c.492+18A>G | NP_001316835.1:n.492+18A>G |