Linked Data
ClinVar Variation Id:
1460631
dbSNP Id:
rs768332999
ExAC:
1:115222313 G / A
gnomAD v2:
1-115222313-G-A
gnomAD v3:
1-114679692-G-A
gnomAD v4:
1-114679692-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114679692G>A , CM000663.2:g.114679692G>A | GRCh38 |
| NC_000001.10:g.115222313G>A , CM000663.1:g.115222313G>A | GRCh37 |
| NC_000001.9:g.115023836G>A | NCBI36 |
| NG_008012.1:g.20864C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.772C>T | ENSP00000358551.4:p.Arg258Trp | |
| ENST00000520113.7:c.784C>T MANE Select | ENSP00000430075.3:p.Arg262Trp | |
| ENST00000637080.1:c.567C>T | ENSP00000489753.1:p.Thr189= | |
| ENST00000639077.1:n.449C>T | ||
| ENST00000369538.3:c.871C>T | ENSP00000358551.3:p.Arg291Trp | |
| ENST00000485564.3:n.438C>T | ||
| ENST00000520113.6:c.883C>T | ENSP00000430075.2:p.Arg295Trp | |
| NM_000036.2:c.883C>T | NP_000027.2:p.Arg295Trp | |
| NM_001172626.1:c.871C>T | NP_001166097.1:p.Arg291Trp | |
| NM_000036.3:c.784C>T MANE Select | NP_000027.3:p.Arg262Trp | |
| NM_001172626.2:c.772C>T | NP_001166097.2:p.Arg258Trp |