Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2431816G>C , CM000681.2:g.2431816G>C | GRCh38 |
| NC_000019.9:g.2431814G>C , CM000681.1:g.2431814G>C | GRCh37 |
| NC_000019.8:g.2382814G>C | NCBI36 |
| NG_008355.1:g.30145C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032737.4:c.1677C>G MANE Select | NP_116126.3:p.Ser559Arg |
| ENST00000325327.4:c.1677C>G MANE Select | ENSP00000327054.3:p.Ser559Arg |
| NM_032737.3:c.1677C>G | NP_116126.3:p.Ser559Arg |
| ENST00000325327.3:c.1677C>G | ENSP00000327054.3:p.Ser559Arg |
| ENST00000475819.1:n.14C>G | |
| ENST00000532465.1:n.269C>G | |
| XM_011528378.1:c.1677C>G | XP_011526680.1:p.Ser559Arg |
| XM_011528379.1:c.1329C>G | XP_011526681.1:p.Ser443Arg |