Linked Data
dbSNP Id:
rs11906665
gnomAD v2:
20-31862994-G-A
gnomAD v3:
20-33275188-G-A
gnomAD v4:
20-33275188-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33275188G>A , CM000682.2:g.33275188G>A | GRCh38 |
| NC_000020.10:g.31862994G>A , CM000682.1:g.31862994G>A | GRCh37 |
| NC_000020.9:g.31326655G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423645.5:c.-42+1534G>A | ENSP00000390471.1:n.-42+1534G>A | |
| XM_024452018.1:c.-295+1534G>A | XP_024307786.1:n.-295+1534G>A |