Linked Data
ClinVar Variation Id:
469623
dbSNP Id:
rs140825810
ExAC:
19:7600845 A / C
gnomAD v2:
19-7600845-A-C
gnomAD v3:
19-7535959-A-C
gnomAD v4:
19-7535959-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7535959A>C , CM000681.2:g.7535959A>C | GRCh38 |
| NC_000019.9:g.7600845A>C , CM000681.1:g.7600845A>C | GRCh37 |
| NC_000019.8:g.7506845A>C | NCBI36 |
| NG_013374.1:g.6808A>C | |
| NG_015806.1:g.18350A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.171A>C MANE Select | ENSP00000473211.1:p.Gly57= | |
| ENST00000221249.10:c.54A>C | ENSP00000221249.5:p.Gly18= | |
| ENST00000414982.7:c.198A>C | ENSP00000407509.2:p.Gly66= | |
| ENST00000450331.7:c.54A>C | ENSP00000394348.2:p.Gly18= | |
| ENST00000545201.6:c.54A>C | ENSP00000443323.1:p.Gly18= | |
| ENST00000593924.5:c.54A>C | ENSP00000469794.1:p.Gly18= | |
| ENST00000596515.5:c.54A>C | ENSP00000470461.1:p.Gly18= | |
| ENST00000600737.5:c.171A>C | ENSP00000473211.1:p.Gly57= | |
| ENST00000600942.5:c.54A>C | ENSP00000472572.1:p.Gly18= | |
| ENST00000601001.5:c.54A>C | ENSP00000472631.1:p.Gly18= | |
| ENST00000601668.5:c.54A>C | ENSP00000470608.1:p.Gly18= | |
| ENST00000601870.1:c.558A>C | ||
| NM_001166111.1:c.198A>C | NP_001159583.1:p.Gly66= | |
| NM_001166112.1:c.54A>C | NP_001159584.1:p.Gly18= | |
| NM_001166113.1:c.54A>C | NP_001159585.1:p.Gly18= | |
| NM_001166114.1:c.171A>C | NP_001159586.1:p.Gly57= | |
| NM_006702.4:c.54A>C | NP_006693.3:p.Gly18= | |
| NM_001166111.2:c.198A>C | NP_001159583.1:p.Gly66= | |
| NM_001166114.2:c.171A>C MANE Select | NP_001159586.1:p.Gly57= | |
| NM_006702.5:c.54A>C | NP_006693.3:p.Gly18= | |
| NM_001166112.2:c.54A>C | NP_001159584.1:p.Gly18= |