Linked Data
ClinVar Variation Id:
321885
dbSNP Id:
rs370376159
ExAC:
17:1565185 T / C
gnomAD v2:
17-1565185-T-C
gnomAD v3:
17-1661891-T-C
gnomAD v4:
17-1661891-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1661891T>C , CM000679.2:g.1661891T>C | GRCh38 |
| NC_000017.10:g.1565185T>C , CM000679.1:g.1565185T>C | GRCh37 |
| NC_000017.9:g.1511935T>C | NCBI36 |
| NG_009118.1:g.27992A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.4022+15A>G | ENSP00000460849.2:n.4022+15A>G | |
| ENST00000703538.1:c.*3745+15A>G | ENSP00000515361.1:n.*3745+15A>G | |
| ENST00000703539.1:n.336+15A>G | ||
| ENST00000703540.1:c.3875+15A>G | ENSP00000515362.1:n.3875+15A>G | |
| ENST00000703541.1:c.3887+15A>G | ENSP00000515363.1:n.3887+15A>G | |
| ENST00000304992.11:c.4022+15A>G MANE Select | ENSP00000304350.6:n.4022+15A>G | |
| ENST00000304992.10:c.4022+15A>G | ENSP00000304350.6:n.4022+15A>G | |
| ENST00000572621.5:c.4022+15A>G | ENSP00000460348.1:n.4022+15A>G | |
| ENST00000573725.1:c.133+15A>G | ||
| NM_006445.3:c.4022+15A>G | NP_006436.3:n.4022+15A>G | |
| XM_024450537.1:c.4022+15A>G | XP_024306305.1:n.4022+15A>G | |
| NM_006445.4:c.4022+15A>G MANE Select | NP_006436.3:n.4022+15A>G |