Linked Data
ClinVar Variation Id:
2634713
ClinVar RCV Id:
RCV003418795
dbSNP Id:
rs202157466
ExAC:
17:39740083 C / G
gnomAD v2:
17-39740083-C-G
gnomAD v3:
17-41583831-C-G
gnomAD v4:
17-41583831-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583831C>G , CM000679.2:g.41583831C>G | GRCh38 |
| NC_000017.10:g.39740083C>G , CM000679.1:g.39740083C>G | GRCh37 |
| NC_000017.9:g.36993609C>G | NCBI36 |
| NG_008624.1:g.8065G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.856G>C MANE Select | ENSP00000167586.6:p.Glu286Gln | |
| ENST00000167586.6:c.856G>C | ENSP00000167586.6:p.Glu286Gln | |
| ENST00000476662.1:n.306G>C | ||
| NM_000526.4:c.856G>C | NP_000517.2:p.Glu286Gln | |
| NM_000526.5:c.856G>C MANE Select | NP_000517.3:p.Glu286Gln |