Linked Data
ClinVar Variation Id:
53822
dbSNP Id:
rs77902683
ExAC:
7:117282622 G / A
gnomAD v2:
7-117282622-G-A
gnomAD v4:
7-117642568-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642568G>A , CM000669.2:g.117642568G>A | GRCh38 |
| NC_000007.13:g.117282622G>A , CM000669.1:g.117282622G>A | GRCh37 |
| NC_000007.12:g.117069858G>A | NCBI36 |
| NG_016465.4:g.181785G>A , LRG_663:g.181785G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*57G>A | ENSP00000497673.2:n.*57G>A | |
| ENST00000647978.2:c.*3562G>A | ENSP00000497658.1:n.*3562G>A | |
| ENST00000649781.2:c.3665G>A | ENSP00000497203.1:p.Arg1222Lys | |
| ENST00000685018.2:c.3848G>A | ENSP00000510194.2:p.Arg1283Lys | |
| ENST00000687278.2:c.*501G>A | ENSP00000509593.2:n.*501G>A | |
| ENST00000699585.1:c.*57G>A | ENSP00000514456.1:n.*57G>A | |
| ENST00000699598.1:c.3848G>A | ENSP00000514467.1:p.Arg1283Lys | |
| ENST00000699599.1:c.3848G>A | ENSP00000514468.1:p.Arg1283Lys | |
| ENST00000699600.1:c.*509G>A | ENSP00000514469.1:n.*509G>A | |
| ENST00000699601.1:c.*2223G>A | ENSP00000514470.1:n.*2223G>A | |
| ENST00000699602.1:c.3842G>A | ENSP00000514471.1:p.Arg1281Lys | |
| ENST00000699604.1:c.*3672G>A | ENSP00000514472.1:n.*3672G>A | |
| ENST00000699605.1:c.3422G>A | ENSP00000514473.1:p.Arg1141Lys | |
| ENST00000685018.1:c.596G>A | ENSP00000510194.1:p.Arg199Lys | |
| ENST00000687278.1:c.1635G>A | ENSP00000509593.1:n.1635G>A | |
| ENST00000689011.1:c.430G>A | ||
| ENST00000003084.11:c.3848G>A MANE Select | ENSP00000003084.6:p.Arg1283Lys | |
| ENST00000647720.1:c.1298G>A | ||
| ENST00000649781.1:c.3665G>A | ENSP00000497203.1:p.Arg1222Lys | |
| ENST00000003084.10:c.3848G>A | ENSP00000003084.6:p.Arg1283Lys | |
| ENST00000426809.5:c.3758G>A | ENSP00000389119.1:p.Arg1253Lys | |
| NM_000492.3:c.3848G>A , LRG_663t1:c.3848G>A | NP_000483.3:p.Arg1283Lys | |
| XM_011515751.1:c.3938G>A | XP_011514053.1:p.Arg1313Lys | |
| XM_011515752.1:c.3938G>A | XP_011514054.1:p.Arg1313Lys | |
| XM_011515753.1:c.3605G>A | XP_011514055.1:p.Arg1202Lys | |
| XM_011515754.1:c.3605G>A | XP_011514056.1:p.Arg1202Lys | |
| NM_000492.4:c.3848G>A MANE Select | NP_000483.3:p.Arg1283Lys |