Linked Data
ClinVar Variation Id:
129240
ClinVar RCV Id:
RCV000117238
RCV000280314
RCV000337755
RCV000445529
RCV001521057
RCV002226673
RCV002453432
dbSNP Id:
rs1800961
ExAC:
20:43042364 C / T
gnomAD v2:
20-43042364-C-T
gnomAD v3:
20-44413724-C-T
gnomAD v4:
20-44413724-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44413724C>T , CM000682.2:g.44413724C>T | GRCh38 |
| NC_000020.10:g.43042364C>T , CM000682.1:g.43042364C>T | GRCh37 |
| NC_000020.9:g.42475778C>T | NCBI36 |
| NG_009818.1:g.62924C>T , LRG_483:g.62924C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316673.9:c.350C>T MANE Select | ENSP00000315180.4:p.Thr117Ile | |
| ENST00000316099.10:c.416C>T | ENSP00000312987.3:p.Thr139Ile | |
| ENST00000619550.5:c.390C>T | ||
| ENST00000683148.1:n.392C>T | ||
| ENST00000683657.1:n.1540C>T | ||
| ENST00000316099.9:c.416C>T | ENSP00000312987.3:p.Thr139Ile | |
| ENST00000316099.8:c.416C>T | ENSP00000312987.3:p.Thr139Ile | |
| ENST00000316673.8:c.350C>T | ENSP00000315180.4:p.Thr117Ile | |
| ENST00000372920.1:c.*183C>T | ENSP00000362011.1:n.*183C>T | |
| ENST00000415691.2:c.416C>T | ENSP00000412111.1:p.Thr139Ile | |
| ENST00000443598.6:c.416C>T | ENSP00000410911.2:p.Thr139Ile | |
| ENST00000457232.5:c.350C>T | ENSP00000396216.1:p.Thr117Ile | |
| ENST00000609795.5:c.350C>T | ENSP00000476609.1:p.Thr117Ile | |
| ENST00000619550.4:c.341C>T | ENSP00000481331.1:p.Thr114Ile | |
| NM_000457.4:c.416C>T , LRG_483t2:c.416C>T | NP_000448.3:p.Thr139Ile | |
| NM_001030003.2:c.350C>T | NP_001025174.1:p.Thr117Ile | |
| NM_001030004.2:c.350C>T | NP_001025175.1:p.Thr117Ile | |
| NM_001258355.1:c.395C>T | NP_001245284.1:p.Thr132Ile | |
| NM_001287182.1:c.341C>T | NP_001274111.1:p.Thr114Ile | |
| NM_001287183.1:c.341C>T , LRG_483t3:c.341C>T | NP_001274112.1:p.Thr114Ile | |
| NM_001287184.1:c.341C>T | NP_001274113.1:p.Thr114Ile | |
| NM_175914.4:c.350C>T , LRG_483t1:c.350C>T | NP_787110.2:p.Thr117Ile | |
| NM_178849.2:c.416C>T | NP_849180.1:p.Thr139Ile | |
| NM_178850.2:c.416C>T | NP_849181.1:p.Thr139Ile | |
| XM_005260407.2:c.533C>T | XP_005260464.1:p.Thr178Ile | |
| XM_011528797.1:c.464C>T | XP_011527099.1:p.Thr155Ile | |
| XM_011528798.1:c.464C>T | XP_011527100.1:p.Thr155Ile | |
| XM_005260407.4:c.533C>T | XP_005260464.1:p.Thr178Ile | |
| NM_001030003.3:c.350C>T | NP_001025174.1:p.Thr117Ile | |
| NM_001030004.3:c.350C>T | NP_001025175.1:p.Thr117Ile | |
| NM_001258355.2:c.395C>T | NP_001245284.1:p.Thr132Ile | |
| NM_001287182.2:c.341C>T | NP_001274111.1:p.Thr114Ile | |
| NM_001287184.2:c.341C>T | NP_001274113.1:p.Thr114Ile | |
| NM_178849.3:c.416C>T | NP_849180.1:p.Thr139Ile | |
| NM_178850.3:c.416C>T | NP_849181.1:p.Thr139Ile | |
| NM_000457.5:c.416C>T | NP_000448.3:p.Thr139Ile | |
| NM_000457.6:c.416C>T | NP_000448.3:p.Thr139Ile | |
| NM_001287183.2:c.341C>T | NP_001274112.1:p.Thr114Ile | |
| NM_175914.5:c.350C>T MANE Select | NP_787110.2:p.Thr117Ile |