Linked Data
ClinVar Variation Id:
226620
dbSNP Id:
rs73369534
ExAC:
6:15523388 T / C
gnomAD v2:
6-15523388-T-C
gnomAD v3:
6-15523157-T-C
gnomAD v4:
6-15523157-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15523157T>C , CM000668.2:g.15523157T>C | GRCh38 |
| NC_000006.11:g.15523388T>C , CM000668.1:g.15523388T>C | GRCh37 |
| NC_000006.10:g.15631367T>C | NCBI36 |
| NG_009309.1:g.144884A>G , LRG_588:g.144884A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344537.10:c.874A>G MANE Select | ENSP00000341680.6:p.Arg292Gly | |
| ENST00000344537.9:c.874A>G | ENSP00000341680.5:p.Arg292Gly | |
| ENST00000355917.7:c.823A>G | ENSP00000348183.4:p.Arg275Gly | |
| ENST00000462989.6:c.406A>G | ENSP00000427239.1:p.Arg136Gly | |
| ENST00000509674.1:c.325A>G | ENSP00000421797.1:p.Arg109Gly | |
| ENST00000510395.5:c.*784A>G | ENSP00000424685.1:n.*784A>G | |
| ENST00000513680.5:c.*874A>G | ENSP00000424357.1:n.*874A>G | |
| ENST00000515875.5:c.*198A>G | ENSP00000425495.1:n.*198A>G | |
| ENST00000622898.4:c.769A>G | ENSP00000481997.1:p.Arg257Gly | |
| NM_001271667.1:c.631A>G | NP_001258596.1:p.Arg211Gly | |
| NM_001271668.1:c.823A>G | NP_001258597.1:p.Arg275Gly | |
| NM_001271669.1:c.769A>G | NP_001258598.1:p.Arg257Gly | |
| NM_032122.4:c.874A>G , LRG_588t1:c.874A>G | NP_115498.2:p.Arg292Gly | |
| XM_005249447.3:c.835A>G | XP_005249504.1:p.Arg279Gly | |
| XM_011514936.1:c.784A>G | XP_011513238.1:p.Arg262Gly | |
| XM_011514937.1:c.406A>G | XP_011513239.1:p.Arg136Gly | |
| XM_005249447.4:c.835A>G | XP_005249504.1:p.Arg279Gly | |
| XM_011514936.3:c.784A>G | XP_011513238.1:p.Arg262Gly | |
| XM_011514937.2:c.406A>G | XP_011513239.1:p.Arg136Gly | |
| XM_017011348.1:c.424A>G | XP_016866837.1:p.Arg142Gly | |
| XM_017011349.1:c.421A>G | XP_016866838.1:p.Arg141Gly | |
| XM_024446567.1:c.475A>G | XP_024302335.1:p.Arg159Gly | |
| NM_032122.5:c.874A>G MANE Select | NP_115498.2:p.Arg292Gly | |
| NM_001271667.2:c.631A>G | NP_001258596.1:p.Arg211Gly | |
| NM_001271668.2:c.823A>G | NP_001258597.1:p.Arg275Gly | |
| NM_001271669.2:c.769A>G | NP_001258598.1:p.Arg257Gly |