Linked Data
ClinVar Variation Id:
39581
ClinVar RCV Id:
RCV000032781
RCV000210719
RCV000429725
RCV000735338
RCV001095741
RCV001310258
RCV001255394
RCV001375021
RCV002251940
RCV003398585
dbSNP Id:
rs398123009
ExAC:
11:65978677 C / T
gnomAD v2:
11-65978677-C-T
gnomAD v3:
11-66211206-C-T
gnomAD v4:
11-66211206-C-T
COSMIC:
COSM72051
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66211206C>T , CM000673.2:g.66211206C>T | GRCh38 |
| NC_000011.9:g.65978677C>T , CM000673.1:g.65978677C>T | GRCh37 |
| NC_000011.8:g.65735253C>T | NCBI36 |
| NG_033900.1:g.145854C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.607C>T MANE Select | ENSP00000316454.4:p.Arg203Trp | |
| ENST00000320580.8:c.607C>T | ENSP00000316454.4:p.Arg203Trp | |
| ENST00000527224.1:n.731C>T | ||
| ENST00000527380.1:c.313C>T | ENSP00000432639.1:p.Arg105Trp | |
| ENST00000533756.5:c.298C>T | ENSP00000437150.1:p.Arg100Trp | |
| NM_018026.3:c.607C>T | NP_060496.2:p.Arg203Trp | |
| XM_011545162.1:c.286C>T | XP_011543464.1:p.Arg96Trp | |
| XM_011545163.1:c.277C>T | XP_011543465.1:p.Arg93Trp | |
| XM_011545164.1:c.268C>T | XP_011543466.1:p.Arg90Trp | |
| XM_011545164.2:c.268C>T | XP_011543466.1:p.Arg90Trp | |
| XR_001747924.1:n.818C>T | ||
| NM_018026.4:c.607C>T MANE Select | NP_060496.2:p.Arg203Trp |