Linked Data
ClinVar Variation Id:
2683272
ClinVar RCV Id:
RCV003480092
dbSNP Id:
rs756141815
ExAC:
14:88401081 G / A
gnomAD v2:
14-88401081-G-A
gnomAD v3:
14-87934737-G-A
gnomAD v4:
14-87934737-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87934737G>A , CM000676.2:g.87934737G>A | GRCh38 |
| NC_000014.8:g.88401081G>A , CM000676.1:g.88401081G>A | GRCh37 |
| NC_000014.7:g.87470834G>A | NCBI36 |
| NG_011853.2:g.63827C>T | |
| NG_011853.3:g.63827C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.2053C>T MANE Select | ENSP00000261304.2:p.Arg685Cys | |
| ENST00000261304.6:c.2053C>T | ENSP00000261304.2:p.Arg685Cys | |
| ENST00000393568.8:c.1984C>T | ENSP00000377198.4:p.Arg662Cys | |
| ENST00000393569.6:c.1975C>T | ENSP00000377199.2:p.Arg659Cys | |
| ENST00000544807.6:c.1744-738C>T | ENSP00000437513.2:n.1744-738C>T | |
| ENST00000555000.5:c.1279-738C>T | ENSP00000450472.1:n.1279-738C>T | |
| NM_000153.3:c.2053C>T | NP_000144.2:p.Arg685Cys | |
| NM_001201401.1:c.1984C>T | NP_001188330.1:p.Arg662Cys | |
| NM_001201402.1:c.1975C>T | NP_001188331.1:p.Arg659Cys | |
| XM_011536618.1:c.1885C>T | XP_011534920.1:p.Arg629Cys | |
| XM_011536618.2:c.1885C>T | XP_011534920.1:p.Arg629Cys | |
| NM_000153.4:c.2053C>T MANE Select | NP_000144.2:p.Arg685Cys | |
| NM_001201401.2:c.1984C>T | NP_001188330.1:p.Arg662Cys | |
| NM_001201402.2:c.1975C>T | NP_001188331.1:p.Arg659Cys |