Linked Data
dbSNP Id:
rs913717450
gnomAD v2:
15-80445138-A-G
gnomAD v3:
15-80152796-A-G
gnomAD v4:
15-80152796-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152796A>G , CM000677.2:g.80152796A>G | GRCh38 |
| NC_000015.9:g.80445138A>G , CM000677.1:g.80445138A>G | GRCh37 |
| NC_000015.8:g.78232193A>G | NCBI36 |
| NG_012833.1:g.4798A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-259A>G | ENSP00000507680.1:n.-259A>G | |
| ENST00000261755.9:c.-75A>G | ENSP00000261755.5:n.-75A>G | |
| ENST00000407106.5:c.-139A>G | ENSP00000385080.1:n.-139A>G | |
| ENST00000537726.5:n.8A>G | ||
| ENST00000558022.5:c.-29-230A>G | ENSP00000453152.1:n.-29-230A>G | |
| ENST00000558767.5:n.3A>G | ||
| NM_001374377.1:c.-139A>G | NP_001361306.1:n.-139A>G | |
| NM_001374380.1:c.-75A>G | NP_001361309.1:n.-75A>G |