Linked Data
dbSNP Id:
rs547366796
gnomAD v2:
6-30976371-G-A
gnomAD v3:
6-31008594-G-A
gnomAD v4:
6-31008594-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31008594G>A , CM000668.2:g.31008594G>A | GRCh38 |
| NC_000006.11:g.30976371G>A , CM000668.1:g.30976371G>A | GRCh37 |
| NC_000006.10:g.31084350G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001198815.1:c.-37-2076G>A | NP_001185744.1:n.-37-2076G>A | |
| NM_001318484.1:c.8-2111G>A | NP_001305413.1:n.8-2111G>A |