Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2433902G>A , CM000681.2:g.2433902G>A | GRCh38 |
| NC_000019.9:g.2433900G>A , CM000681.1:g.2433900G>A | GRCh37 |
| NC_000019.8:g.2384900G>A | NCBI36 |
| NG_008355.1:g.28059C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032737.4:c.1406C>T MANE Select | NP_116126.3:p.Ser469Leu |
| ENST00000325327.4:c.1406C>T MANE Select | ENSP00000327054.3:p.Ser469Leu |
| NM_032737.3:c.1406C>T | NP_116126.3:p.Ser469Leu |
| ENST00000325327.3:c.1406C>T | ENSP00000327054.3:p.Ser469Leu |
| ENST00000490554.5:n.597C>T | |
| XM_011528378.1:c.1406C>T | XP_011526680.1:p.Ser469Leu |
| XM_011528379.1:c.1058C>T | XP_011526681.1:p.Ser353Leu |