Linked Data
ClinVar Variation Id:
2373634
ClinVar RCV Id:
RCV004553916
dbSNP Id:
rs201058690
ExAC:
4:186366256 G / A
gnomAD v2:
4-186366256-G-A
gnomAD v3:
4-185445102-G-A
gnomAD v4:
4-185445102-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185445102G>A , CM000666.2:g.185445102G>A | GRCh38 |
| NC_000004.11:g.186366256G>A , CM000666.1:g.186366256G>A | GRCh37 |
| NC_000004.10:g.186603250G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378850.5:c.853G>A MANE Select | ENSP00000368127.4:p.Glu285Lys | |
| ENST00000378850.4:c.853G>A | ENSP00000368127.4:p.Glu285Lys | |
| ENST00000508698.3:c.*446G>A | ENSP00000425418.1:n.*446G>A | |
| NM_001114357.1:c.853G>A | NP_001107829.1:p.Glu285Lys | |
| XM_005263019.3:c.853G>A | XP_005263076.1:p.Glu285Lys | |
| XM_006714224.2:c.853G>A | XP_006714287.1:p.Glu285Lys | |
| XM_011531985.1:c.853G>A | XP_011530287.1:p.Glu285Lys | |
| XM_011531986.1:c.853G>A | XP_011530288.1:p.Glu285Lys | |
| XM_011531987.1:c.853G>A | XP_011530289.1:p.Glu285Lys | |
| XM_011531988.1:c.853G>A | XP_011530290.1:p.Glu285Lys | |
| XM_011531989.1:c.853G>A | XP_011530291.1:p.Glu285Lys | |
| XM_011531990.1:c.631G>A | XP_011530292.1:p.Glu211Lys | |
| XM_011531991.1:c.475G>A | XP_011530293.1:p.Glu159Lys | |
| NM_001114357.2:c.853G>A | NP_001107829.1:p.Glu285Lys | |
| NM_001346007.1:c.475G>A | NP_001332936.1:p.Glu159Lys | |
| XM_011531989.2:c.853G>A | XP_011530291.1:p.Glu285Lys | |
| XM_017008236.1:c.853G>A | XP_016863725.1:p.Glu285Lys | |
| XM_017008237.1:c.853G>A | XP_016863726.1:p.Glu285Lys | |
| XM_017008238.1:c.853G>A | XP_016863727.1:p.Glu285Lys | |
| XM_017008239.1:c.853G>A | XP_016863728.1:p.Glu285Lys | |
| XM_017008240.1:c.853G>A | XP_016863729.1:p.Glu285Lys | |
| XM_017008241.1:c.475G>A | XP_016863730.1:p.Glu159Lys | |
| NM_001114357.3:c.853G>A MANE Select | NP_001107829.1:p.Glu285Lys | |
| NM_001346007.2:c.475G>A | NP_001332936.1:p.Glu159Lys |