Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594803C>G , CM000679.2:g.56594803C>G | GRCh38 |
| NC_000017.10:g.54672164C>G , CM000679.1:g.54672164C>G | GRCh37 |
| NC_000017.9:g.52027163C>G | NCBI36 |
| NG_011958.1:g.6105C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.580C>G MANE Select | ENSP00000328181.4:p.Pro194Ala | |
| ENST00000332822.4:c.580C>G | ENSP00000328181.4:p.Pro194Ala | |
| NM_005450.4:c.580C>G | NP_005441.1:p.Pro194Ala | |
| NM_005450.6:c.580C>G MANE Select | NP_005441.1:p.Pro194Ala |