Linked Data
ClinVar Variation Id:
447474
ClinVar RCV Id:
RCV000517810
dbSNP Id:
rs909307115
gnomAD v2:
17-42422654-T-G
gnomAD v3:
17-44345286-T-G
gnomAD v4:
17-44345286-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44345286T>G , CM000679.2:g.44345286T>G | GRCh38 |
| NC_000017.10:g.42422654T>G , CM000679.1:g.42422654T>G | GRCh37 |
| NC_000017.9:g.39778180T>G | NCBI36 |
| NG_007886.1:g.5164T>G , LRG_661:g.5164T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.7:c.-56T>G | ENSP00000053867.2:n.-56T>G | |
| ENST00000587109.5:c.-327T>G | ENSP00000466271.1:n.-327T>G | |
| ENST00000587518.5:c.-96T>G | ENSP00000465518.1:n.-96T>G | |
| ENST00000588143.5:c.-52T>G | ENSP00000465375.1:n.-52T>G | |
| ENST00000588170.5:n.41T>G | ||
| ENST00000589536.5:c.-188T>G | ENSP00000466956.1:n.-188T>G | |
| NM_002087.3:c.-56T>G | NP_002078.1:n.-56T>G |