Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.69769T>C , CM000663.2:g.69769T>C | GRCh38 |
| NC_000001.10:g.69769T>C , CM000663.1:g.69769T>C | GRCh37 |
| NC_000001.9:g.59632T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335137.4:c.679T>C | ENSP00000334393.3:p.Ser227Pro | |
| ENST00000641515.2:c.742T>C MANE Select | ENSP00000493376.2:p.Ser248Pro | |
| ENST00000335137.3:c.679T>C | ENSP00000334393.3:p.Ser227Pro | |
| NM_001005484.1:c.679T>C | NP_001005484.1:p.Ser227Pro | |
| NM_001005484.2:c.742T>C MANE Select | NP_001005484.2:p.Ser248Pro |