Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68684978T>C , CM000673.2:g.68684978T>C | GRCh38 |
| NC_000011.9:g.68452446T>C , CM000673.1:g.68452446T>C | GRCh37 |
| NC_000011.8:g.68209022T>C | NCBI36 |
| NG_052785.1:g.5504T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265643.4:c.55T>C MANE Select | ENSP00000265643.3:p.Ser19Pro | |
| ENST00000265643.3:c.55T>C | ENSP00000265643.3:p.Ser19Pro | |
| NM_015973.3:c.55T>C | NP_057057.2:p.Ser19Pro | |
| NM_015973.4:c.55T>C | NP_057057.2:p.Ser19Pro | |
| XR_001748281.1:n.230+2863A>G | ||
| NM_015973.5:c.55T>C MANE Select | NP_057057.2:p.Ser19Pro |