Linked Data
ClinVar Variation Id:
221329
ClinVar RCV Id:
RCV000207121
dbSNP Id:
rs869025244
gnomAD v3:
16-56363055-G-A
gnomAD v4:
16-56363055-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56363055G>A , CM000678.2:g.56363055G>A | GRCh38 |
| NC_000016.9:g.56396967G>A , CM000678.1:g.56396967G>A | GRCh37 |
| NC_000016.8:g.54954468G>A | NCBI36 |
| NG_047034.1:g.67484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290649.10:c.1786C>T MANE Select | ENSP00000290649.5:p.Arg596Cys | |
| ENST00000290649.9:c.1786C>T | ENSP00000290649.5:p.Arg596Cys | |
| ENST00000492830.5:c.754C>T | ENSP00000473636.1:p.Arg252Cys | |
| ENST00000563285.1:n.347C>T | ||
| ENST00000566757.1:n.791C>T | ||
| ENST00000568325.1:n.198C>T | ||
| NM_001144.5:c.1786C>T | NP_001135.3:p.Arg596Cys | |
| XM_005255889.2:c.1501C>T | XP_005255946.1:p.Arg501Cys | |
| XM_005255890.2:c.1501C>T | XP_005255947.1:p.Arg501Cys | |
| NM_001323511.1:c.1501C>T | NP_001310440.1:p.Arg501Cys | |
| NM_001323512.1:c.1882C>T | NP_001310441.1:p.Arg628Cys | |
| XM_005255890.4:c.1501C>T | XP_005255947.1:p.Arg501Cys | |
| NM_001144.6:c.1786C>T MANE Select | NP_001135.3:p.Arg596Cys | |
| NM_001323511.2:c.1501C>T | NP_001310440.1:p.Arg501Cys | |
| NM_001323512.2:c.1882C>T | NP_001310441.1:p.Arg628Cys |