Linked Data
ClinVar Variation Id:
776001
ClinVar RCV Id:
RCV000956236
dbSNP Id:
rs59534319
ExAC:
4:100341839 T / C
gnomAD v2:
4-100341839-T-C
gnomAD v3:
4-99420682-T-C
gnomAD v4:
4-99420682-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420682T>C , CM000666.2:g.99420682T>C | GRCh38 |
| NC_000004.11:g.100341839T>C , CM000666.1:g.100341839T>C | GRCh37 |
| NC_000004.10:g.100560862T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.676A>G MANE Select | ENSP00000414254.2:p.Lys226Glu | |
| ENST00000209665.8:c.712A>G | ENSP00000209665.4:p.Lys238Glu | |
| ENST00000437033.6:c.676A>G | ENSP00000414254.2:p.Lys226Glu | |
| ENST00000476959.5:c.736A>G | ENSP00000420269.1:p.Lys246Glu | |
| ENST00000482593.5:c.505A>G | ENSP00000420613.1:p.Lys169Glu | |
| NM_000673.4:c.712A>G | NP_000664.2:p.Lys238Glu | |
| NM_001166504.1:c.736A>G | NP_001159976.1:p.Lys246Glu | |
| NM_000673.7:c.676A>G MANE Select | NP_000664.3:p.Lys226Glu | |
| NM_001166504.2:c.736A>G | NP_001159976.1:p.Lys246Glu |