Linked Data
ClinVar Variation Id:
392043
dbSNP Id:
rs553088930
ExAC:
19:7600899 A / G
gnomAD v2:
19-7600899-A-G
gnomAD v3:
19-7536013-A-G
gnomAD v4:
19-7536013-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7536013A>G , CM000681.2:g.7536013A>G | GRCh38 |
| NC_000019.9:g.7600899A>G , CM000681.1:g.7600899A>G | GRCh37 |
| NC_000019.8:g.7506899A>G | NCBI36 |
| NG_013374.1:g.6862A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.225A>G MANE Select | ENSP00000473211.1:p.Arg75= | |
| ENST00000221249.10:c.108A>G | ENSP00000221249.5:p.Arg36= | |
| ENST00000414982.7:c.252A>G | ENSP00000407509.2:p.Arg84= | |
| ENST00000450331.7:c.108A>G | ENSP00000394348.2:p.Arg36= | |
| ENST00000545201.6:c.108A>G | ENSP00000443323.1:p.Arg36= | |
| ENST00000593924.5:c.108A>G | ENSP00000469794.1:p.Arg36= | |
| ENST00000596515.5:c.108A>G | ENSP00000470461.1:p.Arg36= | |
| ENST00000600737.5:c.225A>G | ENSP00000473211.1:p.Arg75= | |
| ENST00000600942.5:c.108A>G | ENSP00000472572.1:p.Arg36= | |
| ENST00000601001.5:c.108A>G | ENSP00000472631.1:p.Arg36= | |
| ENST00000601668.5:c.108A>G | ENSP00000470608.1:p.Arg36= | |
| ENST00000601870.1:c.612A>G | ||
| ENST00000602191.5:n.33A>G | ||
| NM_001166111.1:c.252A>G | NP_001159583.1:p.Arg84= | |
| NM_001166112.1:c.108A>G | NP_001159584.1:p.Arg36= | |
| NM_001166113.1:c.108A>G | NP_001159585.1:p.Arg36= | |
| NM_001166114.1:c.225A>G | NP_001159586.1:p.Arg75= | |
| NM_006702.4:c.108A>G | NP_006693.3:p.Arg36= | |
| NM_001166111.2:c.252A>G | NP_001159583.1:p.Arg84= | |
| NM_001166114.2:c.225A>G MANE Select | NP_001159586.1:p.Arg75= | |
| NM_006702.5:c.108A>G | NP_006693.3:p.Arg36= | |
| NM_001166112.2:c.108A>G | NP_001159584.1:p.Arg36= |