Linked Data
ClinVar Variation Id:
1184700
dbSNP Id:
rs10852766
ExAC:
17:73951864 T / C
gnomAD v2:
17-73951864-T-C
gnomAD v3:
17-75955783-T-C
gnomAD v4:
17-75955783-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75955783T>C , CM000679.2:g.75955783T>C | GRCh38 |
| NC_000017.10:g.73951864T>C , CM000679.1:g.73951864T>C | GRCh37 |
| NC_000017.9:g.71463459T>C | NCBI36 |
| NG_008190.1:g.28581A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301608.9:c.658+45A>G | ENSP00000301608.4:n.658+45A>G | |
| ENST00000293217.10:c.658+45A>G MANE Select | ENSP00000293217.4:n.658+45A>G | |
| ENST00000293217.9:c.658+45A>G | ENSP00000293217.4:n.658+45A>G | |
| ENST00000301608.8:c.658+45A>G | ENSP00000301608.4:n.658+45A>G | |
| ENST00000572047.5:c.832+45A>G | ENSP00000459936.1:n.832+45A>G | |
| ENST00000573078.5:c.*147+45A>G | ENSP00000458325.1:n.*147+45A>G | |
| NM_001185039.1:c.544+45A>G | NP_001171968.1:n.544+45A>G | |
| NM_004035.6:c.658+45A>G | NP_004026.2:n.658+45A>G | |
| NM_007292.5:c.658+45A>G | NP_009223.2:n.658+45A>G | |
| XM_011524868.1:c.454+45A>G | XP_011523170.1:n.454+45A>G | |
| XM_011524869.1:c.250+45A>G | XP_011523171.1:n.250+45A>G | |
| XM_011524868.3:c.454+45A>G | XP_011523170.1:n.454+45A>G | |
| XM_011524869.3:c.250+45A>G | XP_011523171.1:n.250+45A>G | |
| NM_004035.7:c.658+45A>G MANE Select | NP_004026.2:n.658+45A>G | |
| NM_001185039.2:c.544+45A>G | NP_001171968.1:n.544+45A>G | |
| NM_007292.6:c.658+45A>G | NP_009223.2:n.658+45A>G |