Linked Data
ClinVar Variation Id:
1390887
ClinVar RCV Id:
RCV001910858
dbSNP Id:
rs199896680
ExAC:
11:59559595 C / T
gnomAD v2:
11-59559595-C-T
gnomAD v3:
11-59792122-C-T
gnomAD v4:
11-59792122-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59792122C>T , CM000673.2:g.59792122C>T | GRCh38 |
| NC_000011.9:g.59559595C>T , CM000673.1:g.59559595C>T | GRCh37 |
| NC_000011.8:g.59316171C>T | NCBI36 |
| NG_047082.1:g.42064C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337979.9:c.373C>T MANE Select | ENSP00000338562.4:p.Arg125Trp | |
| ENST00000641815.1:c.280C>T | ENSP00000493027.1:p.Arg94Trp | |
| ENST00000300150.11:c.280C>T | ENSP00000300150.7:p.Arg94Trp | |
| ENST00000337979.8:c.373C>T | ENSP00000338562.4:p.Arg125Trp | |
| ENST00000528805.1:c.229C>T | ENSP00000431386.1:p.Arg77Trp | |
| ENST00000529177.5:c.373C>T | ENSP00000433248.1:p.Arg125Trp | |
| ENST00000533637.5:c.*141C>T | ENSP00000436200.1:n.*141C>T | |
| ENST00000633708.1:c.373C>T | ENSP00000487790.1:p.Arg125Trp | |
| NM_001178040.1:c.373C>T | NP_001171511.1:p.Arg125Trp | |
| NM_004177.4:c.373C>T | NP_004168.1:p.Arg125Trp | |
| XM_005274195.2:c.373C>T | XP_005274252.1:p.Arg125Trp | |
| XM_005274196.3:c.373C>T | XP_005274253.1:p.Arg125Trp | |
| XM_005274198.2:c.373C>T | XP_005274255.1:p.Arg125Trp | |
| XM_005274200.2:c.373C>T | XP_005274257.1:p.Arg125Trp | |
| XM_011545219.1:c.373C>T | XP_011543521.1:p.Arg125Trp | |
| XM_011545220.1:c.373C>T | XP_011543522.1:p.Arg125Trp | |
| XM_011545221.1:c.82C>T | XP_011543523.1:p.Arg28Trp | |
| XM_005274195.4:c.373C>T | XP_005274252.1:p.Arg125Trp | |
| XM_005274198.3:c.373C>T | XP_005274255.1:p.Arg125Trp | |
| XM_005274200.4:c.373C>T | XP_005274257.1:p.Arg125Trp | |
| XM_011545221.2:c.82C>T | XP_011543523.1:p.Arg28Trp | |
| XM_017018188.1:c.349C>T | XP_016873677.1:p.Arg117Trp | |
| XM_017018189.1:c.349C>T | XP_016873678.1:p.Arg117Trp | |
| XM_017018190.1:c.349C>T | XP_016873679.1:p.Arg117Trp | |
| XM_017018191.1:c.349C>T | XP_016873680.1:p.Arg117Trp | |
| XM_017018192.1:c.349C>T | XP_016873681.1:p.Arg117Trp | |
| XM_017018193.1:c.349C>T | XP_016873682.1:p.Arg117Trp | |
| XM_017018194.1:c.349C>T | XP_016873683.1:p.Arg117Trp | |
| XM_017018195.1:c.349C>T | XP_016873684.1:p.Arg117Trp | |
| XM_017018196.1:c.82C>T | XP_016873685.1:p.Arg28Trp | |
| XR_001747944.2:n.601C>T | ||
| NM_004177.5:c.373C>T MANE Select | NP_004168.1:p.Arg125Trp | |
| NM_001178040.2:c.373C>T | NP_001171511.1:p.Arg125Trp |