Linked Data
ClinVar Variation Id:
256776
dbSNP Id:
rs371190837
ExAC:
17:7357600 C / G
gnomAD v2:
17-7357600-C-G
gnomAD v3:
17-7454281-C-G
gnomAD v4:
17-7454281-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454281C>G , CM000679.2:g.7454281C>G | GRCh38 |
| NC_000017.10:g.7357600C>G , CM000679.1:g.7357600C>G | GRCh37 |
| NC_000017.9:g.7298324C>G | NCBI36 |
| NG_008026.1:g.14195C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.821-16C>G MANE Select | ENSP00000304290.2:n.821-16C>G | |
| ENST00000306071.6:c.821-16C>G | ENSP00000304290.2:n.821-16C>G | |
| ENST00000536404.6:c.605-16C>G | ENSP00000439209.2:n.605-16C>G | |
| ENST00000570557.5:c.484-16C>G | ||
| ENST00000573209.1:n.1765-16C>G | ||
| ENST00000576360.1:c.605-163C>G | ENSP00000459092.1:n.605-163C>G | |
| NM_000747.2:c.821-16C>G | NP_000738.2:n.821-16C>G | |
| NM_000747.3:c.821-16C>G MANE Select | NP_000738.2:n.821-16C>G |