Linked Data
ClinVar Variation Id:
1494102
ClinVar RCV Id:
RCV002012798
dbSNP Id:
rs1237783733
gnomAD v2:
17-7915895-A-G
gnomAD v3:
17-8012577-A-G
gnomAD v4:
17-8012577-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8012577A>G , CM000679.2:g.8012577A>G | GRCh38 |
| NC_000017.10:g.7915895A>G , CM000679.1:g.7915895A>G | GRCh37 |
| NC_000017.9:g.7856620A>G | NCBI36 |
| NG_009092.1:g.14908A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2084A>G MANE Select | ENSP00000254854.4:p.Lys695Arg | |
| ENST00000254854.4:c.2084A>G | ENSP00000254854.4:p.Lys695Arg | |
| NM_000180.3:c.2084A>G | NP_000171.1:p.Lys695Arg | |
| XM_011523816.1:c.2084A>G | XP_011522118.1:p.Lys695Arg | |
| NM_000180.4:c.2084A>G MANE Select | NP_000171.1:p.Lys695Arg |