Linked Data
dbSNP Id:
rs1217843664
gnomAD v2:
6-30976483-G-A
gnomAD v3:
6-31008706-G-A
gnomAD v4:
6-31008706-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31008706G>A , CM000668.2:g.31008706G>A | GRCh38 |
| NC_000006.11:g.30976483G>A , CM000668.1:g.30976483G>A | GRCh37 |
| NC_000006.10:g.31084462G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001198815.1:c.-37-1964G>A | NP_001185744.1:n.-37-1964G>A | |
| NM_001318484.1:c.8-1999G>A | NP_001305413.1:n.8-1999G>A |