Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86574356T>C , CM000670.2:g.86574356T>C | GRCh38 |
| NC_000008.10:g.87586584T>C , CM000670.1:g.87586584T>C | GRCh37 |
| NC_000008.9:g.87655700T>C | NCBI36 |
| NG_016980.1:g.174320A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.*1448A>G MANE Select | ENSP00000316605.5:n.*1448A>G | |
| ENST00000681546.1:n.3698A>G | ||
| ENST00000681746.1:c.*2289A>G | ENSP00000505959.1:n.*2289A>G | |
| ENST00000320005.5:c.*1448A>G | ENSP00000316605.5:n.*1448A>G | |
| ENST00000517327.5:c.276+4333A>G | ENSP00000428329.1:n.276+4333A>G | |
| NM_019098.4:c.*1448A>G | NP_061971.3:n.*1448A>G | |
| XM_011517138.1:c.*1448A>G | XP_011515440.1:n.*1448A>G | |
| XM_011517138.2:c.*1448A>G | XP_011515440.1:n.*1448A>G | |
| NM_019098.5:c.*1448A>G MANE Select | NP_061971.3:n.*1448A>G |