Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33068660C= , CM000668.2:g.33068660C= | GRCh38 |
| NC_000006.11:g.33036437C= , CM000668.1:g.33036437C= | GRCh37 |
| NC_000006.10:g.33144415C= | NCBI36 |
| NG_033241.1:g.17119G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000692443.1:c.773G= MANE Select | ENSP00000509163.1:p.Gly258= |
| NM_001242524.1:c.773G= | NP_001229453.1:p.Gly258= |
| NM_001242524.2:c.773G= | NP_001229453.1:p.Gly258= |
| NM_001242525.1:c.773G= | NP_001229454.1:p.Gly258= |
| NM_001242525.2:c.773G= | NP_001229454.1:p.Gly258= |
| NM_033554.3:c.773G= | NP_291032.2:p.Gly258= |
| ENST00000419277.5:c.773G= | ENSP00000393566.1:p.Gly258= |
| ENST00000437811.1:c.375G= | |
| ENST00000479107.1:n.1372G= | |
| XM_011514559.1:c.628+359G= | XP_011512861.1:n.628+359G= |