Linked Data
ClinVar Variation Id:
897738
ClinVar RCV Id:
RCV001141200
dbSNP Id:
rs542793579
ExAC:
2:32289029 G / C
gnomAD v2:
2-32289029-G-C
gnomAD v3:
2-32063960-G-C
gnomAD v4:
2-32063960-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32063960G>C , CM000664.2:g.32063960G>C | GRCh38 |
| NC_000002.11:g.32289029G>C , CM000664.1:g.32289029G>C | GRCh37 |
| NC_000002.10:g.32142533G>C | NCBI36 |
| NG_008730.1:g.5350G>C , LRG_714:g.5350G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.129G>C | ENSP00000515816.1:p.Glu43Asp | |
| ENST00000315285.9:c.129G>C MANE Select | ENSP00000320885.3:p.Glu43Asp | |
| ENST00000621856.2:c.129G>C | ENSP00000482496.2:p.Glu43Asp | |
| ENST00000642281.1:c.13G>C | ||
| ENST00000642455.1:c.129G>C | ENSP00000493827.1:p.Glu43Asp | |
| ENST00000644408.1:c.5G>C | ||
| ENST00000646571.1:c.129G>C | ENSP00000495015.1:p.Glu43Asp | |
| ENST00000315285.7:c.129G>C | ENSP00000320885.3:p.Glu43Asp | |
| ENST00000345662.5:c.129G>C | ENSP00000340817.1:p.Glu43Asp | |
| ENST00000615843.4:c.129G>C | ENSP00000480893.1:p.Glu43Asp | |
| NM_014946.3:c.129G>C , LRG_714t1:c.129G>C | NP_055761.2:p.Glu43Asp | |
| NM_199436.1:c.129G>C | NP_955468.1:p.Glu43Asp | |
| XM_005264516.3:c.129G>C | XP_005264573.1:p.Glu43Asp | |
| XM_011533067.1:c.129G>C | XP_011531369.1:p.Glu43Asp | |
| NM_001363823.1:c.129G>C | NP_001350752.1:p.Glu43Asp | |
| NM_001363875.1:c.129G>C | NP_001350804.1:p.Glu43Asp | |
| XM_005264516.5:c.129G>C | XP_005264573.1:p.Glu43Asp | |
| XM_011533067.2:c.129G>C | XP_011531369.1:p.Glu43Asp | |
| XM_017004778.2:c.129G>C | XP_016860267.1:p.Glu43Asp | |
| NM_001363823.2:c.129G>C | NP_001350752.1:p.Glu43Asp | |
| NM_001363875.2:c.129G>C | NP_001350804.1:p.Glu43Asp | |
| NM_001377959.1:c.129G>C | NP_001364888.1:p.Glu43Asp | |
| NM_014946.4:c.129G>C MANE Select | NP_055761.2:p.Glu43Asp | |
| NM_199436.2:c.129G>C | NP_955468.1:p.Glu43Asp |