Linked Data
dbSNP Id:
rs775843694
ExAC:
1:115226845 C / A
gnomAD v2:
1-115226845-C-A
gnomAD v4:
1-114684224-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684224C>A , CM000663.2:g.114684224C>A | GRCh38 |
| NC_000001.10:g.115226845C>A , CM000663.1:g.115226845C>A | GRCh37 |
| NC_000001.9:g.115028368C>A | NCBI36 |
| NG_008012.1:g.16332G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.510G>T | ENSP00000358551.4:p.Trp170Cys | |
| ENST00000520113.7:c.522G>T MANE Select | ENSP00000430075.3:p.Trp174Cys | |
| ENST00000637080.1:c.525G>T | ENSP00000489753.1:p.Trp175Cys | |
| ENST00000639077.1:n.187G>T | ||
| ENST00000369538.3:c.609G>T | ENSP00000358551.3:p.Trp203Cys | |
| ENST00000485564.3:n.396G>T | ||
| ENST00000520113.6:c.621G>T | ENSP00000430075.2:p.Trp207Cys | |
| NM_000036.2:c.621G>T | NP_000027.2:p.Trp207Cys | |
| NM_001172626.1:c.609G>T | NP_001166097.1:p.Trp203Cys | |
| NM_000036.3:c.522G>T MANE Select | NP_000027.3:p.Trp174Cys | |
| NM_001172626.2:c.510G>T | NP_001166097.2:p.Trp170Cys |