Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94030504G>T , CM000663.2:g.94030504G>T | GRCh38 |
| NC_000001.10:g.94496060G>T , CM000663.1:g.94496060G>T | GRCh37 |
| NC_000001.9:g.94268648G>T | NCBI36 |
| NG_009073.1:g.95646C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4276C>A MANE Select | ENSP00000359245.3:p.Gln1426Lys | |
| ENST00000370225.3:c.4276C>A | ENSP00000359245.3:p.Gln1426Lys | |
| ENST00000536513.5:c.652C>A | ENSP00000439707.2:p.Gln218Lys | |
| NM_000350.2:c.4276C>A | NP_000341.2:p.Gln1426Lys | |
| NM_000350.3:c.4276C>A MANE Select | NP_000341.2:p.Gln1426Lys |