Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100662317C>T , CM000685.2:g.100662317C>T | GRCh38 |
| NC_000023.10:g.99917314C>T , CM000685.1:g.99917314C>T | GRCh37 |
| NC_000023.9:g.99803970C>T | NCBI36 |
| NG_021337.1:g.23152C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014467.3:c.305C>T MANE Select | NP_055282.1:p.Ser102Leu |
| ENST00000373004.5:c.305C>T MANE Select | ENSP00000362095.3:p.Ser102Leu |
| NM_014467.2:c.305C>T | NP_055282.1:p.Ser102Leu |
| ENST00000373004.3:c.305C>T | ENSP00000362095.3:p.Ser102Leu |
| ENST00000638319.1:n.293C>T | |
| ENST00000638458.1:c.329C>T | ENSP00000492168.1:p.Ser110Leu |
| ENST00000638920.1:n.308C>T | |
| ENST00000640889.1:c.305C>T | ENSP00000492571.1:p.Ser102Leu |
| ENST00000677630.1:n.239C>T | |
| ENST00000679590.1:n.338C>T | |
| XM_005262121.2:c.305C>T | XP_005262178.1:p.Ser102Leu |