Linked Data
ClinVar Variation Id:
52970
ClinVar RCV Id:
RCV000057571
RCV000148545
RCV000182181
RCV000203070
RCV000356516
RCV000656189
RCV000265217
RCV000825350
RCV001841626
RCV002467560
RCV000619428
dbSNP Id:
rs199472776
ExAC:
11:2608860 C / T
gnomAD v2:
11-2608860-C-T
gnomAD v3:
11-2587630-C-T
gnomAD v4:
11-2587630-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2587630C>T , CM000673.2:g.2587630C>T | GRCh38 |
| NC_000011.9:g.2608860C>T , CM000673.1:g.2608860C>T | GRCh37 |
| NC_000011.8:g.2565436C>T | NCBI36 |
| NG_008935.1:g.147640C>T , LRG_287:g.147640C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.832C>T | ENSP00000434560.2:p.Arg278Trp | |
| ENST00000646564.2:c.649C>T | ENSP00000495806.2:p.Arg217Trp | |
| ENST00000155840.12:c.1189C>T MANE Select | ENSP00000155840.2:p.Arg397Trp | |
| ENST00000335475.6:c.808C>T | ENSP00000334497.5:p.Arg270Trp | |
| ENST00000646564.1:c.295C>T | ENSP00000495806.1:p.Arg99Trp | |
| ENST00000155840.9:c.1189C>T | ENSP00000155840.2:p.Arg397Trp | |
| ENST00000335475.5:c.808C>T | ENSP00000334497.5:p.Arg270Trp | |
| NM_000218.2:c.1189C>T , LRG_287t1:c.1189C>T | NP_000209.2:p.Arg397Trp | |
| NM_181798.1:c.808C>T , LRG_287t2:c.808C>T | NP_861463.1:p.Arg270Trp | |
| NM_000218.3:c.1189C>T MANE Select | NP_000209.2:p.Arg397Trp |