Linked Data
ClinVar Variation Id:
510982
ClinVar RCV Id:
RCV000600551
dbSNP Id:
rs775805059
gnomAD v2:
9-97401416-G-C
gnomAD v3:
9-94639134-G-C
gnomAD v4:
9-94639134-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94639134G>C , CM000671.2:g.94639134G>C | GRCh38 |
| NC_000009.11:g.97401416G>C , CM000671.1:g.97401416G>C | GRCh37 |
| NC_000009.10:g.96441237G>C | NCBI36 |
| NG_008174.1:g.6116C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682520.1:c.170+7C>G | ENSP00000507547.1:n.170+7C>G | |
| ENST00000375326.9:c.170+7C>G MANE Select | ENSP00000364475.5:n.170+7C>G | |
| ENST00000375326.8:c.170+7C>G | ENSP00000364475.4:n.170+7C>G | |
| ENST00000414122.1:c.-83+910C>G | ENSP00000411619.1:n.-83+910C>G | |
| ENST00000415431.5:c.170+7C>G | ENSP00000408025.1:n.170+7C>G | |
| NM_000507.3:c.170+7C>G | NP_000498.2:n.170+7C>G | |
| NM_001127628.1:c.170+7C>G | NP_001121100.1:n.170+7C>G | |
| XM_006717005.2:c.-77+910C>G | XP_006717068.1:n.-77+910C>G | |
| XM_006717005.4:c.-77+910C>G | XP_006717068.1:n.-77+910C>G | |
| NM_000507.4:c.170+7C>G MANE Select | NP_000498.2:n.170+7C>G | |
| NM_001127628.2:c.170+7C>G | NP_001121100.1:n.170+7C>G |