Linked Data
ClinVar Variation Id:
299892
ClinVar RCV Id:
RCV000292520
RCV000352045
RCV000402202
RCV000390089
RCV003469251
RCV001840481
RCV001239526
RCV002392835
RCV004529483
dbSNP Id:
rs775842917
ExAC:
10:43606811 C / T
gnomAD v2:
10-43606811-C-T
gnomAD v3:
10-43111363-C-T
gnomAD v4:
10-43111363-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43111363C>T , CM000672.2:g.43111363C>T | GRCh38 |
| NC_000010.10:g.43606811C>T , CM000672.1:g.43606811C>T | GRCh37 |
| NC_000010.9:g.42926817C>T | NCBI36 |
| NG_007489.1:g.39295C>T , LRG_518:g.39295C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1024C>T | ENSP00000480088.2:p.Arg342Trp | |
| ENST00000683007.1:n.994C>T | ||
| ENST00000683872.1:n.181C>T | ||
| ENST00000340058.6:c.1420C>T | ENSP00000344798.4:p.Arg474Trp | |
| ENST00000355710.8:c.1420C>T MANE Select | ENSP00000347942.3:p.Arg474Trp | |
| ENST00000671844.1:c.*14C>T | ENSP00000500541.1:n.*14C>T | |
| ENST00000672389.1:c.*14C>T | ENSP00000500252.1:n.*14C>T | |
| ENST00000340058.5:c.1420C>T | ENSP00000344798.4:p.Arg474Trp | |
| ENST00000355710.7:c.1420C>T | ENSP00000347942.3:p.Arg474Trp | |
| ENST00000498820.5:c.74-736C>T | ENSP00000419080.1:n.74-736C>T | |
| ENST00000615310.4:c.1289+131C>T | ENSP00000480088.1:n.1289+131C>T | |
| NM_020630.4:c.1420C>T , LRG_518t2:c.1420C>T | NP_065681.1:p.Arg474Trp | |
| NM_020975.4:c.1420C>T , LRG_518t1:c.1420C>T | NP_066124.1:p.Arg474Trp | |
| XM_011540027.1:c.1420C>T | XP_011538329.1:p.Arg474Trp | |
| NM_001355216.1:c.658C>T | NP_001342145.1:p.Arg220Trp | |
| NM_020630.5:c.1420C>T | NP_065681.1:p.Arg474Trp | |
| NM_020975.5:c.1420C>T | NP_066124.1:p.Arg474Trp | |
| NM_020975.6:c.1420C>T MANE Select | NP_066124.1:p.Arg474Trp | |
| NM_020630.6:c.1420C>T | NP_065681.1:p.Arg474Trp |