Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665816T>C , CM000663.2:g.172665816T>C | GRCh38 |
| NC_000001.10:g.172634956T>C , CM000663.1:g.172634956T>C | GRCh37 |
| NC_000001.9:g.170901579T>C | NCBI36 |
| NG_007269.1:g.11772T>C , LRG_58:g.11772T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.646T>C MANE Select | ENSP00000356694.2:p.Ser216Pro | |
| ENST00000340030.4:c.*216T>C | ENSP00000344739.3:n.*216T>C | |
| ENST00000367721.2:c.646T>C | ENSP00000356694.2:p.Ser216Pro | |
| NM_000639.2:c.646T>C | NP_000630.1:p.Ser216Pro | |
| NM_001302746.1:c.*216T>C | NP_001289675.1:n.*216T>C | |
| NM_000639.3:c.646T>C MANE Select | NP_000630.1:p.Ser216Pro | |
| NM_001302746.2:c.*216T>C | NP_001289675.1:n.*216T>C |