Linked Data
dbSNP Id:
rs192253604
gnomAD v2:
16-68757769-G-A
gnomAD v3:
16-68723866-G-A
gnomAD v4:
16-68723866-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68723866G>A , CM000678.2:g.68723866G>A | GRCh38 |
| NC_000016.9:g.68757769G>A , CM000678.1:g.68757769G>A | GRCh37 |
| NC_000016.8:g.67315270G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000569080.2:c.291+1250G>A | ENSP00000463415.1:n.291+1250G>A | |
| XM_011522800.1:c.*45+1250G>A | XP_011521102.1:n.*45+1250G>A | |
| XM_011522800.3:c.*45+1250G>A | XP_011521102.1:n.*45+1250G>A |