Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159233665C>A , CM000668.2:g.159233665C>A | GRCh38 |
| NC_000006.11:g.159654697C>A , CM000668.1:g.159654697C>A | GRCh37 |
| NC_000006.10:g.159574687C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032532.3:c.3153C>A MANE Select | NP_115921.2:p.Ser1051= |
| ENST00000297267.14:c.3153C>A MANE Select | ENSP00000297267.9:p.Ser1051= |
| NM_032532.2:c.3153C>A | NP_115921.2:p.Ser1051= |
| ENST00000297267.13:c.3153C>A | ENSP00000297267.9:p.Ser1051= |
| ENST00000329629.8:c.2839C>A | |
| XM_011536190.1:c.3084C>A | XP_011534492.1:p.Ser1028= |
| XM_011536190.2:c.3084C>A | XP_011534492.1:p.Ser1028= |
| XM_011536191.1:c.2802C>A | XP_011534493.1:p.Ser934= |
| XM_011536191.2:c.2802C>A | XP_011534493.1:p.Ser934= |