Linked Data
ClinVar Variation Id:
989108
ClinVar RCV Id:
RCV001391506
dbSNP Id:
rs1189374970
gnomAD v4:
2-32128415-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32128415C>A , CM000664.2:g.32128415C>A | GRCh38 |
| NC_000002.11:g.32353484C>A , CM000664.1:g.32353484C>A | GRCh37 |
| NC_000002.10:g.32206988C>A | NCBI36 |
| NG_008730.1:g.69805C>A , LRG_714:g.69805C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*841C>A | ENSP00000515816.1:n.*841C>A | |
| ENST00000315285.9:c.1181C>A MANE Select | ENSP00000320885.3:p.Ala394Glu | |
| ENST00000621856.2:c.1178C>A | ENSP00000482496.2:p.Ala393Glu | |
| ENST00000642281.1:c.983-8148C>A | ||
| ENST00000642455.1:c.1082C>A | ENSP00000493827.1:p.Ala361Glu | |
| ENST00000642751.1:c.955C>A | ||
| ENST00000642999.1:c.923C>A | ENSP00000496589.1:p.Ala308Glu | |
| ENST00000643327.1:c.340C>A | ||
| ENST00000643334.1:c.761C>A | ||
| ENST00000644408.1:c.1057C>A | ||
| ENST00000644954.1:c.827C>A | ENSP00000494312.1:p.Ala276Glu | |
| ENST00000645159.1:n.1918C>A | ||
| ENST00000645550.1:n.394C>A | ||
| ENST00000645671.1:c.631C>A | ||
| ENST00000645730.1:c.528C>A | ||
| ENST00000646082.1:c.827C>A | ||
| ENST00000646571.1:c.1085C>A | ENSP00000495015.1:p.Ala362Glu | |
| ENST00000647007.1:n.873C>A | ||
| ENST00000647133.1:c.681C>A | ||
| ENST00000315285.7:c.1181C>A | ENSP00000320885.3:p.Ala394Glu | |
| ENST00000345662.5:c.1085C>A | ENSP00000340817.1:p.Ala362Glu | |
| ENST00000615843.4:c.1181C>A | ENSP00000480893.1:p.Ala394Glu | |
| ENST00000621856.1:c.923C>A | ENSP00000482496.1:p.Ala308Glu | |
| NM_014946.3:c.1181C>A , LRG_714t1:c.1181C>A | NP_055761.2:p.Ala394Glu | |
| NM_199436.1:c.1085C>A | NP_955468.1:p.Ala362Glu | |
| XM_005264516.3:c.1178C>A | XP_005264573.1:p.Ala393Glu | |
| XM_011533067.1:c.1181C>A | XP_011531369.1:p.Ala394Glu | |
| NM_001363823.1:c.1178C>A | NP_001350752.1:p.Ala393Glu | |
| NM_001363875.1:c.1082C>A | NP_001350804.1:p.Ala361Glu | |
| XM_005264516.5:c.1178C>A | XP_005264573.1:p.Ala393Glu | |
| XM_011533067.2:c.1181C>A | XP_011531369.1:p.Ala394Glu | |
| XM_017004778.2:c.1085C>A | XP_016860267.1:p.Ala362Glu | |
| NM_001363823.2:c.1178C>A | NP_001350752.1:p.Ala393Glu | |
| NM_001363875.2:c.1082C>A | NP_001350804.1:p.Ala361Glu | |
| NM_001377959.1:c.1085C>A | NP_001364888.1:p.Ala362Glu | |
| NM_014946.4:c.1181C>A MANE Select | NP_055761.2:p.Ala394Glu | |
| NM_199436.2:c.1085C>A | NP_955468.1:p.Ala362Glu |