Linked Data
ClinVar Variation Id:
436543
ClinVar RCV Id:
RCV000502236
dbSNP Id:
rs201602859
ExAC:
21:43176894 G / A
gnomAD v2:
21-43176894-G-A
gnomAD v3:
21-41756734-G-A
gnomAD v4:
21-41756734-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41756734G>A , CM000683.2:g.41756734G>A | GRCh38 |
| NC_000021.8:g.43176894G>A , CM000683.1:g.43176894G>A | GRCh37 |
| NC_000021.7:g.42049963G>A | NCBI36 |
| NG_032113.1:g.15356C>T | |
| NG_032113.2:g.15356C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.265C>T MANE Select | ENSP00000332454.3:p.Arg89Cys | |
| ENST00000332512.7:c.265C>T | ENSP00000332454.3:p.Arg89Cys | |
| ENST00000352483.3:c.265C>T | ENSP00000330161.2:p.Arg89Cys | |
| NM_020639.2:c.265C>T | NP_065690.2:p.Arg89Cys | |
| NM_020639.3:c.265C>T MANE Select | NP_065690.2:p.Arg89Cys |