Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1225481G>C , CM000667.2:g.1225481G>C | GRCh38 |
| NC_000005.9:g.1225596G>C , CM000667.1:g.1225596G>C | GRCh37 |
| NC_000005.8:g.1278596G>C | NCBI36 |
| NG_008282.1:g.28887G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324642.4:c.4G>C MANE Select | ENSP00000323549.3:p.Ala2Pro | |
| ENST00000324642.3:c.4G>C | ENSP00000323549.3:p.Ala2Pro | |
| ENST00000513607.2:n.73G>C | ||
| NM_182632.2:c.4G>C | NP_872438.2:p.Ala2Pro | |
| NM_182632.3:c.4G>C MANE Select | NP_872438.2:p.Ala2Pro |