Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.92982683G>A , CM000673.2:g.92982683G>A | GRCh38 |
| NC_000011.9:g.92715849G>A , CM000673.1:g.92715849G>A | GRCh37 |
| NC_000011.8:g.92355497G>A | NCBI36 |
| NG_028160.1:g.18061G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005959.5:c.*371G>A MANE Select | NP_005950.1:n.*371G>A |
| ENST00000257068.3:c.*371G>A MANE Select | ENSP00000257068.2:n.*371G>A |
| NM_005959.3:c.*371G>A | NP_005950.1:n.*371G>A |
| ENST00000257068.2:c.*371G>A | ENSP00000257068.2:n.*371G>A |
| ENST00000528076.1:c.166-2124G>A | |
| XM_011542839.1:c.*371G>A | XP_011541141.1:n.*371G>A |
| XM_011542839.2:c.1460G>A | XP_011541141.1:n.1460G>A |
| XM_017017777.1:c.*371G>A | XP_016873266.1:n.*371G>A |