Linked Data
ClinVar Variation Id:
36349
dbSNP Id:
rs193922472
ExAC:
20:43042375 A / G
gnomAD v2:
20-43042375-A-G
gnomAD v3:
20-44413735-A-G
gnomAD v4:
20-44413735-A-G
ERepo:
CA213929/MONDO:0015967/085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44413735A>G , CM000682.2:g.44413735A>G | GRCh38 |
| NC_000020.10:g.43042375A>G , CM000682.1:g.43042375A>G | GRCh37 |
| NC_000020.9:g.42475789A>G | NCBI36 |
| NG_009818.1:g.62935A>G , LRG_483:g.62935A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.361A>G MANE Select | ENSP00000315180.4:p.Ser121Gly | |
| ENST00000316099.10:c.427A>G | ENSP00000312987.3:p.Ser143Gly | |
| ENST00000619550.5:c.401A>G | ||
| ENST00000683148.1:n.403A>G | ||
| ENST00000683657.1:n.1551A>G | ||
| ENST00000316099.9:c.427A>G | ENSP00000312987.3:p.Ser143Gly | |
| ENST00000316099.8:c.427A>G | ENSP00000312987.3:p.Ser143Gly | |
| ENST00000316673.8:c.361A>G | ENSP00000315180.4:p.Ser121Gly | |
| ENST00000372920.1:c.*194A>G | ENSP00000362011.1:n.*194A>G | |
| ENST00000415691.2:c.427A>G | ENSP00000412111.1:p.Ser143Gly | |
| ENST00000443598.6:c.427A>G | ENSP00000410911.2:p.Ser143Gly | |
| ENST00000457232.5:c.361A>G | ENSP00000396216.1:p.Ser121Gly | |
| ENST00000609795.5:c.361A>G | ENSP00000476609.1:p.Ser121Gly | |
| ENST00000619550.4:c.352A>G | ENSP00000481331.1:p.Ser118Gly | |
| NM_000457.4:c.427A>G , LRG_483t2:c.427A>G | NP_000448.3:p.Ser143Gly | |
| NM_001030003.2:c.361A>G | NP_001025174.1:p.Ser121Gly | |
| NM_001030004.2:c.361A>G | NP_001025175.1:p.Ser121Gly | |
| NM_001258355.1:c.406A>G | NP_001245284.1:p.Ser136Gly | |
| NM_001287182.1:c.352A>G | NP_001274111.1:p.Ser118Gly | |
| NM_001287183.1:c.352A>G , LRG_483t3:c.352A>G | NP_001274112.1:p.Ser118Gly | |
| NM_001287184.1:c.352A>G | NP_001274113.1:p.Ser118Gly | |
| NM_175914.4:c.361A>G , LRG_483t1:c.361A>G | NP_787110.2:p.Ser121Gly | |
| NM_178849.2:c.427A>G | NP_849180.1:p.Ser143Gly | |
| NM_178850.2:c.427A>G | NP_849181.1:p.Ser143Gly | |
| XM_005260407.2:c.544A>G | XP_005260464.1:p.Ser182Gly | |
| XM_011528797.1:c.475A>G | XP_011527099.1:p.Ser159Gly | |
| XM_011528798.1:c.475A>G | XP_011527100.1:p.Ser159Gly | |
| XM_005260407.4:c.544A>G | XP_005260464.1:p.Ser182Gly | |
| NM_001030003.3:c.361A>G | NP_001025174.1:p.Ser121Gly | |
| NM_001030004.3:c.361A>G | NP_001025175.1:p.Ser121Gly | |
| NM_001258355.2:c.406A>G | NP_001245284.1:p.Ser136Gly | |
| NM_001287182.2:c.352A>G | NP_001274111.1:p.Ser118Gly | |
| NM_001287184.2:c.352A>G | NP_001274113.1:p.Ser118Gly | |
| NM_178849.3:c.427A>G | NP_849180.1:p.Ser143Gly | |
| NM_178850.3:c.427A>G | NP_849181.1:p.Ser143Gly | |
| NM_000457.5:c.427A>G | NP_000448.3:p.Ser143Gly | |
| NM_000457.6:c.427A>G | NP_000448.3:p.Ser143Gly | |
| NM_001287183.2:c.352A>G | NP_001274112.1:p.Ser118Gly | |
| NM_175914.5:c.361A>G MANE Select | NP_787110.2:p.Ser121Gly |