Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840253A>C , CM000677.2:g.84840253A>C | GRCh38 |
| NC_000015.9:g.85383484A>C , CM000677.1:g.85383484A>C | GRCh37 |
| NC_000015.8:g.83184488A>C | NCBI36 |
| NG_054748.1:g.28623A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.974A>C MANE Select | ENSP00000258888.6:p.Gln325Pro | |
| ENST00000258888.5:c.1580A>C | ENSP00000258888.5:p.Gln527Pro | |
| NM_020778.4:c.1580A>C | NP_065829.3:p.Gln527Pro | |
| NM_020778.5:c.974A>C MANE Select | NP_065829.4:p.Gln325Pro |