Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44264588A>C , CM000673.2:g.44264588A>C | GRCh38 |
| NC_000011.9:g.44286138A>C , CM000673.1:g.44286138A>C | GRCh37 |
| NC_000011.8:g.44242714A>C | NCBI36 |
| NG_015809.1:g.50579T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021926.4:c.*266T>G MANE Select | NP_068745.2:n.*266T>G |
| ENST00000652299.1:c.*266T>G MANE Select | ENSP00000498217.1:n.*266T>G |
| NM_021926.3:c.*266T>G | NP_068745.2:n.*266T>G |
| ENST00000329255.3:c.*266T>G | ENSP00000332744.3:n.*266T>G |
| XM_011520265.1:c.*266T>G | XP_011518567.1:n.*266T>G |
| XM_011520266.1:c.*266T>G | XP_011518568.1:n.*266T>G |