Linked Data
dbSNP Id:
rs180897906
gnomAD v2:
6-30976135-C-A
gnomAD v3:
6-31008358-C-A
gnomAD v4:
6-31008358-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31008358C>A , CM000668.2:g.31008358C>A | GRCh38 |
| NC_000006.11:g.30976135C>A , CM000668.1:g.30976135C>A | GRCh37 |
| NC_000006.10:g.31084114C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001198815.1:c.-38+2225C>A | NP_001185744.1:n.-38+2225C>A | |
| NM_001318484.1:c.7+2225C>A | NP_001305413.1:n.7+2225C>A |