Linked Data
ClinVar Variation Id:
256834
ClinVar RCV Id:
RCV000242862
dbSNP Id:
rs1057335
ExAC:
17:1657653 G / A
gnomAD v2:
17-1657653-G-A
gnomAD v3:
17-1754359-G-A
gnomAD v4:
17-1754359-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1754359G>A , CM000679.2:g.1754359G>A | GRCh38 |
| NC_000017.10:g.1657653G>A , CM000679.1:g.1657653G>A | GRCh37 |
| NC_000017.9:g.1604403G>A | NCBI36 |
| NG_013215.1:g.16524G>A , LRG_885:g.16524G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382061.5:c.1301G>A | ENSP00000371493.4:p.Arg434Lys | |
| ENST00000453066.6:c.1301G>A MANE Select | ENSP00000402286.2:p.Arg434Lys | |
| ENST00000324015.7:c.1301G>A | ENSP00000321853.3:p.Arg434Lys | |
| ENST00000382061.4:c.1301G>A | ENSP00000371493.4:p.Arg434Lys | |
| ENST00000450523.6:c.1109G>A | ENSP00000403877.2:p.Arg370Lys | |
| NM_000934.3:c.1301G>A , LRG_885t1:c.1301G>A | NP_000925.2:p.Arg434Lys | |
| NM_001165920.1:c.1301G>A | NP_001159392.1:p.Arg434Lys | |
| NM_001165921.1:c.1109G>A | NP_001159393.1:p.Arg370Lys | |
| XM_005256699.3:c.1406G>A | XP_005256756.1:p.Arg469Lys | |
| XM_005256700.3:c.1313G>A | XP_005256757.1:p.Arg438Lys | |
| XM_005256701.3:c.1349G>A | XP_005256758.2:p.Arg450Lys | |
| XM_005256703.3:c.1220G>A | XP_005256760.1:p.Arg407Lys | |
| XM_005256701.4:c.1349G>A | XP_005256758.2:p.Arg450Lys | |
| XM_017024765.1:c.1313G>A | XP_016880254.1:p.Arg438Lys | |
| XM_024450805.1:c.1313G>A | XP_024306573.1:p.Arg438Lys | |
| NM_000934.4:c.1301G>A MANE Select | NP_000925.2:p.Arg434Lys | |
| NM_001165921.2:c.1109G>A | NP_001159393.1:p.Arg370Lys |