Linked Data
ClinVar Variation Id:
410537
ClinVar RCV Id:
RCV000471461
dbSNP Id:
rs764417585
ExAC:
5:125912891 G / T
gnomAD v2:
5-125912891-G-T
gnomAD v4:
5-126577199-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126577199G>T , CM000667.2:g.126577199G>T | GRCh38 |
| NC_000005.9:g.125912891G>T , CM000667.1:g.125912891G>T | GRCh37 |
| NC_000005.8:g.125940790G>T | NCBI36 |
| NG_008600.2:g.23192C>A | |
| NG_008600.3:g.23192C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.530C>A MANE Select | ENSP00000387123.3:p.Ala177Glu | |
| ENST00000412186.2:c.406C>A | ENSP00000414536.2:p.His136Asn | |
| ENST00000413020.6:c.530C>A | ENSP00000487936.1:p.Ala177Glu | |
| ENST00000458249.6:c.*439C>A | ENSP00000403929.1:n.*439C>A | |
| ENST00000503281.6:c.119C>A | ||
| ENST00000509270.2:c.464C>A | ENSP00000449318.2:p.Ala155Glu | |
| ENST00000509459.6:c.78C>A | ||
| ENST00000511266.6:n.1252C>A | ||
| ENST00000635851.1:c.528C>A | ||
| ENST00000636062.1:n.425C>A | ||
| ENST00000636225.1:c.*339C>A | ENSP00000490797.1:n.*339C>A | |
| ENST00000636286.1:n.248C>A | ||
| ENST00000636743.1:c.410C>A | ENSP00000489725.1:p.Ala137Glu | |
| ENST00000636808.1:c.*339C>A | ENSP00000490833.1:n.*339C>A | |
| ENST00000636872.1:c.690C>A | ENSP00000490919.1:n.690C>A | |
| ENST00000636879.1:c.575C>A | ENSP00000490811.1:p.Ala192Glu | |
| ENST00000636886.1:c.329C>A | ENSP00000490371.1:p.Ala110Glu | |
| ENST00000637206.1:c.530C>A | ENSP00000489895.1:p.Ala177Glu | |
| ENST00000637272.1:c.530C>A | ENSP00000489686.1:p.Ala177Glu | |
| ENST00000637292.1:c.183C>A | ||
| ENST00000637782.1:c.530C>A | ENSP00000490024.1:p.Ala177Glu | |
| ENST00000637964.1:c.476C>A | ENSP00000490291.1:p.Ala159Glu | |
| ENST00000638008.1:c.*472C>A | ENSP00000490400.1:n.*472C>A | |
| ENST00000409134.7:c.530C>A | ENSP00000387123.3:p.Ala177Glu | |
| ENST00000413020.5:c.530C>A | ENSP00000487936.1:p.Ala177Glu | |
| ENST00000433026.5:n.57C>A | ||
| ENST00000447989.6:c.611C>A | ENSP00000414132.2:p.Ala204Glu | |
| ENST00000458249.5:c.690C>A | ENSP00000403929.1:n.690C>A | |
| ENST00000503281.5:c.119C>A | ||
| ENST00000509270.1:c.410C>A | ENSP00000449318.1:p.Ala137Glu | |
| ENST00000509459.5:c.78C>A | ||
| ENST00000510111.6:c.443C>A | ENSP00000447388.1:p.Ala148Glu | |
| ENST00000511266.5:n.361C>A | ||
| ENST00000553117.5:c.530C>A | ENSP00000448593.1:p.Ala177Glu | |
| NM_001182.4:c.530C>A | NP_001173.2:p.Ala177Glu | |
| NM_001201377.1:c.446C>A | NP_001188306.1:p.Ala149Glu | |
| NM_001202404.1:c.611C>A | NP_001189333.1:p.Ala204Glu | |
| XM_011543417.1:c.125C>A | XP_011541719.1:p.Ala42Glu | |
| XM_011543417.2:c.125C>A | XP_011541719.1:p.Ala42Glu | |
| NM_001182.5:c.530C>A MANE Select | NP_001173.2:p.Ala177Glu | |
| NM_001201377.2:c.446C>A | NP_001188306.1:p.Ala149Glu | |
| NM_001202404.2:c.530C>A | NP_001189333.2:p.Ala177Glu |