Linked Data
ClinVar Variation Id:
2983218
ClinVar RCV Id:
RCV003847833
dbSNP Id:
rs763930691
ExAC:
7:117232360 T / A
gnomAD v2:
7-117232360-T-A
gnomAD v3:
7-117592306-T-A
gnomAD v4:
7-117592306-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592306T>A , CM000669.2:g.117592306T>A | GRCh38 |
| NC_000007.13:g.117232360T>A , CM000669.1:g.117232360T>A | GRCh37 |
| NC_000007.12:g.117019596T>A | NCBI36 |
| NG_016465.4:g.131523T>A , LRG_663:g.131523T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2139T>A | ENSP00000497673.2:p.Ile713= | |
| ENST00000647978.2:c.*1853T>A | ENSP00000497658.1:n.*1853T>A | |
| ENST00000649781.2:c.1956T>A | ENSP00000497203.1:p.Ile652= | |
| ENST00000685018.2:c.2139T>A | ENSP00000510194.2:p.Ile713= | |
| ENST00000687278.2:c.2139T>A | ENSP00000509593.2:p.Ile713= | |
| ENST00000699585.1:c.2139T>A | ENSP00000514456.1:p.Ile713= | |
| ENST00000699598.1:c.2139T>A | ENSP00000514467.1:p.Ile713= | |
| ENST00000699599.1:c.2139T>A | ENSP00000514468.1:p.Ile713= | |
| ENST00000699600.1:c.2139T>A | ENSP00000514469.1:p.Ile713= | |
| ENST00000699601.1:c.*439T>A | ENSP00000514470.1:n.*439T>A | |
| ENST00000699602.1:c.2139T>A | ENSP00000514471.1:p.Ile713= | |
| ENST00000699604.1:c.*1963T>A | ENSP00000514472.1:n.*1963T>A | |
| ENST00000699605.1:c.1713T>A | ENSP00000514473.1:p.Ile571= | |
| ENST00000003084.11:c.2139T>A MANE Select | ENSP00000003084.6:p.Ile713= | |
| ENST00000647978.1:c.*1853T>A | ENSP00000497658.1:n.*1853T>A | |
| ENST00000648260.1:c.1402-10520T>A | ENSP00000497957.1:n.1402-10520T>A | |
| ENST00000649406.1:c.1956T>A | ENSP00000497965.1:p.Ile652= | |
| ENST00000649781.1:c.1956T>A | ENSP00000497203.1:p.Ile652= | |
| ENST00000003084.10:c.2139T>A | ENSP00000003084.6:p.Ile713= | |
| ENST00000426809.5:c.2049T>A | ENSP00000389119.1:p.Ile683= | |
| NM_000492.3:c.2139T>A , LRG_663t1:c.2139T>A | NP_000483.3:p.Ile713= | |
| XM_011515751.1:c.2229T>A | XP_011514053.1:p.Ile743= | |
| XM_011515752.1:c.2229T>A | XP_011514054.1:p.Ile743= | |
| XM_011515753.1:c.1896T>A | XP_011514055.1:p.Ile632= | |
| XM_011515754.1:c.1896T>A | XP_011514056.1:p.Ile632= | |
| NM_000492.4:c.2139T>A MANE Select | NP_000483.3:p.Ile713= |