Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178981543G>C , CM000667.2:g.178981543G>C | GRCh38 |
| NC_000005.9:g.178408544G>C , CM000667.1:g.178408544G>C | GRCh37 |
| NC_000005.8:g.178341150G>C | NCBI36 |
| NG_008105.1:g.18581C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000843.4:c.*114C>G MANE Select | NP_000834.2:n.*114C>G |
| ENST00000517717.3:c.*114C>G MANE Select | ENSP00000430767.1:n.*114C>G |
| NM_000843.3:c.*114C>G | NP_000834.2:n.*114C>G |
| ENST00000231188.9:c.*114C>G | ENSP00000231188.5:n.*114C>G |
| ENST00000650031.1:c.*114C>G | ENSP00000497110.1:n.*114C>G |
| ENST00000650488.1:n.1471C>G | |
| XR_941310.1:n.1470-8204G>C |