Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213787C>G , CM000667.2:g.1213787C>G | GRCh38 |
| NC_000005.9:g.1213902C>G , CM000667.1:g.1213902C>G | GRCh37 |
| NC_000005.8:g.1266902C>G | NCBI36 |
| NG_008282.1:g.17193C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.775-166C>G MANE Select | ENSP00000305302.10:n.775-166C>G | |
| ENST00000304460.10:c.775-166C>G | ENSP00000305302.10:n.775-166C>G | |
| ENST00000515652.5:c.683-166C>G | ENSP00000425701.1:n.683-166C>G | |
| NM_001003841.2:c.775-166C>G | NP_001003841.1:n.775-166C>G | |
| NM_001003841.3:c.775-166C>G MANE Select | NP_001003841.1:n.775-166C>G |