Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33068660C>T , CM000668.2:g.33068660C>T | GRCh38 |
| NC_000006.11:g.33036437C>T , CM000668.1:g.33036437C>T | GRCh37 |
| NC_000006.10:g.33144415C>T | NCBI36 |
| NG_033241.1:g.17119G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000692443.1:c.773G>A MANE Select | ENSP00000509163.1:p.Gly258Glu |
| NM_001242524.1:c.773G>A | NP_001229453.1:p.Gly258Glu |
| NM_001242524.2:c.773G>A | NP_001229453.1:p.Gly258Glu |
| NM_001242525.1:c.773G>A | NP_001229454.1:p.Gly258Glu |
| NM_001242525.2:c.773G>A | NP_001229454.1:p.Gly258Glu |
| NM_033554.3:c.773G>A | NP_291032.2:p.Gly258Glu |
| ENST00000419277.5:c.773G>A | ENSP00000393566.1:p.Gly258Glu |
| ENST00000437811.1:c.375G>A | |
| ENST00000479107.1:n.1372G>A | |
| XM_011514559.1:c.628+359G>A | XP_011512861.1:n.628+359G>A |