Linked Data
ClinVar Variation Id:
2179445
dbSNP Id:
rs370236380
ExAC:
1:115226847 A / G
gnomAD v2:
1-115226847-A-G
gnomAD v3:
1-114684226-A-G
gnomAD v4:
1-114684226-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684226A>G , CM000663.2:g.114684226A>G | GRCh38 |
| NC_000001.10:g.115226847A>G , CM000663.1:g.115226847A>G | GRCh37 |
| NC_000001.9:g.115028370A>G | NCBI36 |
| NG_008012.1:g.16330T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.508T>C | ENSP00000358551.4:p.Trp170Arg | |
| ENST00000520113.7:c.520T>C MANE Select | ENSP00000430075.3:p.Trp174Arg | |
| ENST00000637080.1:c.523T>C | ENSP00000489753.1:p.Trp175Arg | |
| ENST00000639077.1:n.185T>C | ||
| ENST00000369538.3:c.607T>C | ENSP00000358551.3:p.Trp203Arg | |
| ENST00000485564.3:n.394T>C | ||
| ENST00000520113.6:c.619T>C | ENSP00000430075.2:p.Trp207Arg | |
| NM_000036.2:c.619T>C | NP_000027.2:p.Trp207Arg | |
| NM_001172626.1:c.607T>C | NP_001166097.1:p.Trp203Arg | |
| NM_000036.3:c.520T>C MANE Select | NP_000027.3:p.Trp174Arg | |
| NM_001172626.2:c.508T>C | NP_001166097.2:p.Trp170Arg |