Linked Data
ClinVar Variation Id:
323093
ClinVar RCV Id:
RCV000377184
dbSNP Id:
rs7211835
ExAC:
17:39659529 T / C
gnomAD v2:
17-39659529-T-C
gnomAD v3:
17-41503277-T-C
gnomAD v4:
17-41503277-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41503277T>C , CM000679.2:g.41503277T>C | GRCh38 |
| NC_000017.10:g.39659529T>C , CM000679.1:g.39659529T>C | GRCh37 |
| NC_000017.9:g.36913055T>C | NCBI36 |
| NG_008406.1:g.7337A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246635.8:c.735+10A>G MANE Select | ENSP00000246635.3:n.735+10A>G | |
| ENST00000246635.7:c.735+10A>G | ENSP00000246635.3:n.735+10A>G | |
| ENST00000336861.7:c.735+10A>G | ENSP00000336604.3:n.735+10A>G | |
| ENST00000464634.2:c.*332+10A>G | ENSP00000466525.1:n.*332+10A>G | |
| ENST00000468313.5:n.571+10A>G | ||
| ENST00000587435.1:c.456+10A>G | ENSP00000467833.1:n.456+10A>G | |
| ENST00000587544.5:c.735+10A>G | ENSP00000468221.1:n.735+10A>G | |
| ENST00000590425.1:c.414+10A>G | ENSP00000466465.1:n.414+10A>G | |
| NM_002274.3:c.735+10A>G | NP_002265.2:n.735+10A>G | |
| NM_153490.2:c.735+10A>G | NP_705694.2:n.735+10A>G | |
| NM_153490.3:c.735+10A>G MANE Select | NP_705694.3:n.735+10A>G | |
| NM_002274.4:c.735+10A>G | NP_002265.3:n.735+10A>G |