Linked Data
ClinVar Variation Id:
379458
ClinVar RCV Id:
RCV000421942
dbSNP Id:
rs199955107
ExAC:
11:13514134 G / A
gnomAD v2:
11-13514134-G-A
gnomAD v3:
11-13492587-G-A
gnomAD v4:
11-13492587-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13492587G>A , CM000673.2:g.13492587G>A | GRCh38 |
| NC_000011.9:g.13514134G>A , CM000673.1:g.13514134G>A | GRCh37 |
| NC_000011.8:g.13470710G>A | NCBI36 |
| NG_008962.1:g.8434C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282091.6:c.166C>T MANE Select | ENSP00000282091.1:p.Arg56Cys | |
| ENST00000282091.5:c.166C>T | ENSP00000282091.1:p.Arg56Cys | |
| ENST00000529816.1:c.166C>T | ENSP00000433208.1:p.Arg56Cys | |
| NM_000315.2:c.166C>T | NP_000306.1:p.Arg56Cys | |
| NM_000315.3:c.166C>T | NP_000306.1:p.Arg56Cys | |
| NM_001316352.1:c.262C>T | NP_001303281.1:p.Arg88Cys | |
| NM_000315.4:c.166C>T MANE Select | NP_000306.1:p.Arg56Cys | |
| NM_001316352.2:c.262C>T | NP_001303281.1:p.Arg88Cys |