Linked Data
ClinVar Variation Id:
1120653
ClinVar RCV Id:
RCV001450660
dbSNP Id:
rs760765585
ExAC:
17:7915454 C / G
gnomAD v2:
17-7915454-C-G
gnomAD v3:
17-8012136-C-G
gnomAD v4:
17-8012136-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8012136C>G , CM000679.2:g.8012136C>G | GRCh38 |
| NC_000017.10:g.7915454C>G , CM000679.1:g.7915454C>G | GRCh37 |
| NC_000017.9:g.7856179C>G | NCBI36 |
| NG_009092.1:g.14467C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.1750-8C>G MANE Select | ENSP00000254854.4:n.1750-8C>G | |
| ENST00000254854.4:c.1750-8C>G | ENSP00000254854.4:n.1750-8C>G | |
| NM_000180.3:c.1750-8C>G | NP_000171.1:n.1750-8C>G | |
| XM_011523816.1:c.1750-8C>G | XP_011522118.1:n.1750-8C>G | |
| NM_000180.4:c.1750-8C>G MANE Select | NP_000171.1:n.1750-8C>G |