ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89714247A>C , CM000673.2:g.89714247A>C | GRCh38 |
| NC_000011.9:g.89447415A>C , CM000673.1:g.89447415A>C | GRCh37 |
| NC_000011.8:g.89087063A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398290.7:c.563A>C MANE Select | ENSP00000474003.1:p.Gln188Pro | |
| ENST00000534392.4:c.157-911A>C | ENSP00000474353.1:n.157-911A>C | |
| NM_001146162.1:c.563A>C MANE Select | NP_001139634.1:p.Gln188Pro | |
| NM_001271942.1:c.508-911A>C | NP_001258871.1:n.508-911A>C |