Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840573G>C , CM000677.2:g.84840573G>C | GRCh38 |
| NC_000015.9:g.85383804G>C , CM000677.1:g.85383804G>C | GRCh37 |
| NC_000015.8:g.83184808G>C | NCBI36 |
| NG_054748.1:g.28943G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.1294G>C MANE Select | ENSP00000258888.6:p.Glu432Gln | |
| ENST00000258888.5:c.1900G>C | ENSP00000258888.5:p.Glu634Gln | |
| NM_020778.4:c.1900G>C | NP_065829.3:p.Glu634Gln | |
| NM_020778.5:c.1294G>C MANE Select | NP_065829.4:p.Glu432Gln |