Linked Data
ClinVar Variation Id:
418662
ClinVar RCV Id:
RCV000483696
dbSNP Id:
rs1064793352
gnomAD v3:
12-48000072-A-G
gnomAD v4:
12-48000072-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48000072A>G , CM000674.2:g.48000072A>G | GRCh38 |
| NC_000012.11:g.48393855A>G , CM000674.1:g.48393855A>G | GRCh37 |
| NC_000012.10:g.46680122A>G | NCBI36 |
| NG_008072.1:g.9431T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337299.7:c.86-1641T>C | ENSP00000338213.6:n.86-1641T>C | |
| ENST00000380518.8:c.139T>C MANE Select | ENSP00000369889.3:p.Trp47Arg | |
| ENST00000490609.2:n.372T>C | ||
| ENST00000337299.6:c.86-1641T>C | ENSP00000338213.6:n.86-1641T>C | |
| ENST00000380518.7:c.139T>C | ENSP00000369889.3:p.Trp47Arg | |
| ENST00000474996.6:n.377T>C | ||
| ENST00000490609.1:n.304T>C | ||
| NM_001844.4:c.139T>C | NP_001835.3:p.Trp47Arg | |
| NM_033150.2:c.86-1641T>C | NP_149162.2:n.86-1641T>C | |
| XM_006719242.2:c.280T>C | XP_006719305.2:p.Trp94Arg | |
| XM_011537928.1:c.280T>C | XP_011536230.1:p.Trp94Arg | |
| XM_011537929.1:c.280T>C | XP_011536231.1:p.Trp94Arg | |
| XM_011537930.1:c.280T>C | XP_011536232.1:p.Trp94Arg | |
| XM_011537931.1:c.280T>C | XP_011536233.1:p.Trp94Arg | |
| XM_011537932.1:c.280T>C | XP_011536234.1:p.Trp94Arg | |
| XM_011537933.1:c.280T>C | XP_011536235.1:p.Trp94Arg | |
| XM_011537934.1:c.280T>C | XP_011536236.1:p.Trp94Arg | |
| XM_017018828.1:c.280T>C | XP_016874317.1:p.Trp94Arg | |
| XM_017018829.1:c.280T>C | XP_016874318.1:p.Trp94Arg | |
| XM_017018830.1:c.227-1641T>C | XP_016874319.1:n.227-1641T>C | |
| XM_017018831.2:c.-408T>C | XP_016874320.1:n.-408T>C | |
| NM_001844.5:c.139T>C MANE Select | NP_001835.3:p.Trp47Arg | |
| NM_033150.3:c.86-1641T>C | NP_149162.2:n.86-1641T>C |