Linked Data
dbSNP Id:
rs1247225899
gnomAD v2:
6-31870240-G-A
gnomAD v3:
6-31902463-G-A
gnomAD v4:
6-31902463-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31902463G>A , CM000668.2:g.31902463G>A | GRCh38 |
| NC_000006.11:g.31870240G>A , CM000668.1:g.31870240G>A | GRCh37 |
| NC_000006.10:g.31978219G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452323.7:c.73+1324G>A | ENSP00000392322.2:n.73+1324G>A | |
| ENST00000497706.6:c.-64+4521G>A | ENSP00000417482.2:n.-64+4521G>A | |
| ENST00000695637.1:c.-360+4188G>A | ENSP00000512074.1:n.-360+4188G>A | |
| ENST00000452202.5:c.73+1324G>A | ENSP00000406121.1:n.73+1324G>A | |
| ENST00000452323.6:c.73+1324G>A | ENSP00000392322.2:n.73+1324G>A | |
| ENST00000469372.5:c.-64+4521G>A | ENSP00000418923.1:n.-64+4521G>A | |
| ENST00000497706.5:c.-64+4521G>A | ENSP00000417482.1:n.-64+4521G>A | |
| NM_001178063.2:c.73+1324G>A | NP_001171534.1:n.73+1324G>A | |
| NM_001282457.1:c.-64+4521G>A | NP_001269386.1:n.-64+4521G>A | |
| NM_001282457.2:c.-64+4521G>A | NP_001269386.1:n.-64+4521G>A | |
| NM_001178063.3:c.73+1324G>A | NP_001171534.1:n.73+1324G>A |