Linked Data
ClinVar Variation Id:
323177
dbSNP Id:
rs114527140
gnomAD v2:
17-39969020-G-A
gnomAD v3:
17-41812768-G-A
gnomAD v4:
17-41812768-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41812768G>A , CM000679.2:g.41812768G>A | GRCh38 |
| NC_000017.10:g.39969020G>A , CM000679.1:g.39969020G>A | GRCh37 |
| NC_000017.9:g.37222546G>A | NCBI36 |
| NG_015860.1:g.5059G>A , LRG_12:g.5059G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585664.5:c.-23+29G>A | ENSP00000468703.1:n.-23+29G>A | |
| ENST00000585922.5:c.-6+29G>A | ENSP00000466097.1:n.-6+29G>A | |
| NM_021939.3:c.-267G>A , LRG_12t1:c.-267G>A | NP_068758.3:n.-267G>A | |
| XM_011525099.1:c.-267G>A | XP_011523401.1:n.-267G>A |