Linked Data
ClinVar Variation Id:
1592757
ClinVar RCV Id:
RCV002111867
dbSNP Id:
rs200482114
gnomAD v2:
7-117282662-T-G
gnomAD v3:
7-117642608-T-G
gnomAD v4:
7-117642608-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642608T>G , CM000669.2:g.117642608T>G | GRCh38 |
| NC_000007.13:g.117282662T>G , CM000669.1:g.117282662T>G | GRCh37 |
| NC_000007.12:g.117069898T>G | NCBI36 |
| NG_016465.4:g.181825T>G , LRG_663:g.181825T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*82+15T>G | ENSP00000497673.2:n.*82+15T>G | |
| ENST00000647978.2:c.*3587+15T>G | ENSP00000497658.1:n.*3587+15T>G | |
| ENST00000649781.2:c.3690+15T>G | ENSP00000497203.1:n.3690+15T>G | |
| ENST00000685018.2:c.3873+15T>G | ENSP00000510194.2:n.3873+15T>G | |
| ENST00000687278.2:c.*526+15T>G | ENSP00000509593.2:n.*526+15T>G | |
| ENST00000699585.1:c.*82+15T>G | ENSP00000514456.1:n.*82+15T>G | |
| ENST00000699598.1:c.3873+15T>G | ENSP00000514467.1:n.3873+15T>G | |
| ENST00000699599.1:c.3873+15T>G | ENSP00000514468.1:n.3873+15T>G | |
| ENST00000699600.1:c.*534+15T>G | ENSP00000514469.1:n.*534+15T>G | |
| ENST00000699601.1:c.*2248+15T>G | ENSP00000514470.1:n.*2248+15T>G | |
| ENST00000699602.1:c.3867+15T>G | ENSP00000514471.1:n.3867+15T>G | |
| ENST00000699604.1:c.*3697+15T>G | ENSP00000514472.1:n.*3697+15T>G | |
| ENST00000699605.1:c.3447+15T>G | ENSP00000514473.1:n.3447+15T>G | |
| ENST00000685018.1:c.621+15T>G | ENSP00000510194.1:n.621+15T>G | |
| ENST00000687278.1:c.1660+15T>G | ENSP00000509593.1:n.1660+15T>G | |
| ENST00000689011.1:c.455+15T>G | ||
| ENST00000003084.11:c.3873+15T>G MANE Select | ENSP00000003084.6:n.3873+15T>G | |
| ENST00000647720.1:c.1323+15T>G | ||
| ENST00000649781.1:c.3690+15T>G | ENSP00000497203.1:n.3690+15T>G | |
| ENST00000003084.10:c.3873+15T>G | ENSP00000003084.6:n.3873+15T>G | |
| ENST00000426809.5:c.3783+15T>G | ENSP00000389119.1:n.3783+15T>G | |
| NM_000492.3:c.3873+15T>G , LRG_663t1:c.3873+15T>G | NP_000483.3:n.3873+15T>G | |
| XM_011515751.1:c.3963+15T>G | XP_011514053.1:n.3963+15T>G | |
| XM_011515752.1:c.3963+15T>G | XP_011514054.1:n.3963+15T>G | |
| XM_011515753.1:c.3630+15T>G | XP_011514055.1:n.3630+15T>G | |
| XM_011515754.1:c.3630+15T>G | XP_011514056.1:n.3630+15T>G | |
| NM_000492.4:c.3873+15T>G MANE Select | NP_000483.3:n.3873+15T>G |