Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17346058A>G , CM000663.2:g.17346058A>G | GRCh38 |
| NC_000001.10:g.17672553A>G , CM000663.1:g.17672553A>G | GRCh37 |
| NC_000001.9:g.17545140A>G | NCBI36 |
| NG_023261.2:g.42869A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.966A>G MANE Select | ENSP00000364597.4:p.Ser322= | |
| ENST00000468945.1:n.25A>G | ||
| NM_012387.2:c.966A>G | NP_036519.2:p.Ser322= | |
| XM_011541150.1:c.780A>G | XP_011539452.1:p.Ser260= | |
| XM_011541151.1:c.966A>G | XP_011539453.1:p.Ser322= | |
| XM_011541152.1:c.429A>G | XP_011539454.1:p.Ser143= | |
| XM_011541153.1:c.966A>G | XP_011539455.1:p.Ser322= | |
| XM_011541154.1:c.966A>G | XP_011539456.1:p.Ser322= | |
| XM_011541155.1:c.966A>G | XP_011539457.1:p.Ser322= | |
| XM_011541156.1:c.966A>G | XP_011539458.1:p.Ser322= | |
| XM_011541157.1:c.75A>G | XP_011539459.1:p.Ser25= | |
| XM_011541154.2:c.966A>G | XP_011539456.1:p.Ser322= | |
| NM_012387.3:c.966A>G MANE Select | NP_036519.2:p.Ser322= |