Linked Data
ClinVar Variation Id:
435440
dbSNP Id:
rs757897768
ExAC:
20:43057088 G / A
gnomAD v2:
20-43057088-G-A
gnomAD v3:
20-44428448-G-A
gnomAD v4:
20-44428448-G-A
ERepo:
CA9870495/MONDO:0015967/085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44428448G>A , CM000682.2:g.44428448G>A | GRCh38 |
| NC_000020.10:g.43057088G>A , CM000682.1:g.43057088G>A | GRCh37 |
| NC_000020.9:g.42490502G>A | NCBI36 |
| NG_009818.1:g.77648G>A , LRG_483:g.77648G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.1177G>A MANE Select | ENSP00000315180.4:p.Gly393Arg | |
| ENST00000316099.10:c.1243G>A | ENSP00000312987.3:p.Gly415Arg | |
| ENST00000316099.9:c.1243G>A | ENSP00000312987.3:p.Gly415Arg | |
| ENST00000316099.8:c.1243G>A | ENSP00000312987.3:p.Gly415Arg | |
| ENST00000316673.8:c.1177G>A | ENSP00000315180.4:p.Gly393Arg | |
| ENST00000372920.1:c.*1010G>A | ENSP00000362011.1:n.*1010G>A | |
| ENST00000415691.2:c.1243G>A | ENSP00000412111.1:p.Gly415Arg | |
| ENST00000457232.5:c.1177G>A | ENSP00000396216.1:p.Gly393Arg | |
| ENST00000619550.4:c.1168G>A | ENSP00000481331.1:p.Gly390Arg | |
| NM_000457.4:c.1243G>A , LRG_483t2:c.1243G>A | NP_000448.3:p.Gly415Arg | |
| NM_001030003.2:c.1177G>A | NP_001025174.1:p.Gly393Arg | |
| NM_001258355.1:c.1222G>A | NP_001245284.1:p.Gly408Arg | |
| NM_001287182.1:c.1168G>A | NP_001274111.1:p.Gly390Arg | |
| NM_001287183.1:c.1168G>A , LRG_483t3:c.1168G>A | NP_001274112.1:p.Gly390Arg | |
| NM_175914.4:c.1177G>A , LRG_483t1:c.1177G>A | NP_787110.2:p.Gly393Arg | |
| NM_178849.2:c.1243G>A | NP_849180.1:p.Gly415Arg | |
| XM_005260407.2:c.1360G>A | XP_005260464.1:p.Gly454Arg | |
| XM_011528797.1:c.1291G>A | XP_011527099.1:p.Gly431Arg | |
| XM_011528798.1:c.1291G>A | XP_011527100.1:p.Gly431Arg | |
| XM_005260407.4:c.1360G>A | XP_005260464.1:p.Gly454Arg | |
| NM_001030003.3:c.1177G>A | NP_001025174.1:p.Gly393Arg | |
| NM_001258355.2:c.1222G>A | NP_001245284.1:p.Gly408Arg | |
| NM_001287182.2:c.1168G>A | NP_001274111.1:p.Gly390Arg | |
| NM_178849.3:c.1243G>A | NP_849180.1:p.Gly415Arg | |
| NM_000457.5:c.1243G>A | NP_000448.3:p.Gly415Arg | |
| NM_000457.6:c.1243G>A | NP_000448.3:p.Gly415Arg | |
| NM_001287183.2:c.1168G>A | NP_001274112.1:p.Gly390Arg | |
| NM_175914.5:c.1177G>A MANE Select | NP_787110.2:p.Gly393Arg |