Linked Data
dbSNP Id:
rs750248584
ExAC:
17:7357851 C / G
gnomAD v2:
17-7357851-C-G
gnomAD v4:
17-7454532-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454532C>G , CM000679.2:g.7454532C>G | GRCh38 |
| NC_000017.10:g.7357851C>G , CM000679.1:g.7357851C>G | GRCh37 |
| NC_000017.9:g.7298575C>G | NCBI36 |
| NG_008026.1:g.14446C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1044+12C>G MANE Select | ENSP00000304290.2:n.1044+12C>G | |
| ENST00000306071.6:c.1044+12C>G | ENSP00000304290.2:n.1044+12C>G | |
| ENST00000536404.6:c.828+12C>G | ENSP00000439209.2:n.828+12C>G | |
| ENST00000570557.5:c.707+12C>G | ||
| ENST00000573209.1:n.1988+12C>G | ||
| ENST00000576360.1:c.681+12C>G | ENSP00000459092.1:n.681+12C>G | |
| NM_000747.2:c.1044+12C>G | NP_000738.2:n.1044+12C>G | |
| NM_000747.3:c.1044+12C>G MANE Select | NP_000738.2:n.1044+12C>G |