Linked Data
ClinVar Variation Id:
200903
dbSNP Id:
rs766616232
ExAC:
11:2608872 C / T
gnomAD v2:
11-2608872-C-T
gnomAD v3:
11-2587642-C-T
gnomAD v4:
11-2587642-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2587642C>T , CM000673.2:g.2587642C>T | GRCh38 |
| NC_000011.9:g.2608872C>T , CM000673.1:g.2608872C>T | GRCh37 |
| NC_000011.8:g.2565448C>T | NCBI36 |
| NG_008935.1:g.147652C>T , LRG_287:g.147652C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.844C>T | ENSP00000434560.2:p.Arg282Trp | |
| ENST00000646564.2:c.661C>T | ENSP00000495806.2:p.Arg221Trp | |
| ENST00000155840.12:c.1201C>T MANE Select | ENSP00000155840.2:p.Arg401Trp | |
| ENST00000335475.6:c.820C>T | ENSP00000334497.5:p.Arg274Trp | |
| ENST00000646564.1:c.307C>T | ENSP00000495806.1:p.Arg103Trp | |
| ENST00000155840.9:c.1201C>T | ENSP00000155840.2:p.Arg401Trp | |
| ENST00000335475.5:c.820C>T | ENSP00000334497.5:p.Arg274Trp | |
| NM_000218.2:c.1201C>T , LRG_287t1:c.1201C>T | NP_000209.2:p.Arg401Trp | |
| NM_181798.1:c.820C>T , LRG_287t2:c.820C>T | NP_861463.1:p.Arg274Trp | |
| NM_000218.3:c.1201C>T MANE Select | NP_000209.2:p.Arg401Trp |