Linked Data
ClinVar Variation Id:
1386040
ClinVar RCV Id:
RCV001905665
dbSNP Id:
rs1357336410
gnomAD v2:
12-5153473-C-T
gnomAD v3:
12-5044307-C-T
gnomAD v4:
12-5044307-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044307C>T , CM000674.2:g.5044307C>T | GRCh38 |
| NC_000012.11:g.5153473C>T , CM000674.1:g.5153473C>T | GRCh37 |
| NC_000012.10:g.5023734C>T | NCBI36 |
| NG_012198.1:g.5389C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.160C>T MANE Select | ENSP00000252321.3:p.Arg54Cys | |
| ENST00000252321.4:c.160C>T | ENSP00000252321.3:p.Arg54Cys | |
| NM_002234.3:c.160C>T | NP_002225.2:p.Arg54Cys | |
| NM_002234.4:c.160C>T MANE Select | NP_002225.2:p.Arg54Cys |