Linked Data
ClinVar Variation Id:
2080946
ClinVar RCV Id:
RCV002979591
dbSNP Id:
rs201568695
ExAC:
2:208994275 G / A
gnomAD v2:
2-208994275-G-A
gnomAD v3:
2-208129551-G-A
gnomAD v4:
2-208129551-G-A
COSMIC:
COSM1015565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129551G>A , CM000664.2:g.208129551G>A | GRCh38 |
| NC_000002.11:g.208994275G>A , CM000664.1:g.208994275G>A | GRCh37 |
| NC_000002.10:g.208702520G>A | NCBI36 |
| NG_008038.1:g.5280C>T | |
| NG_008039.1:g.39C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.142C>T MANE Select | ENSP00000282141.3:p.Arg48Cys | |
| ENST00000282141.3:c.142C>T | ENSP00000282141.3:p.Arg48Cys | |
| NM_020989.3:c.142C>T | NP_066269.1:p.Arg48Cys | |
| NR_038437.1:n.98-7505G>A | ||
| XM_011510661.1:c.142C>T | XP_011508963.1:p.Arg48Cys | |
| XM_011510662.1:c.142C>T | XP_011508964.1:p.Arg48Cys | |
| XM_011510663.1:c.13C>T | XP_011508965.1:p.Arg5Cys | |
| NM_020989.4:c.142C>T MANE Select | NP_066269.1:p.Arg48Cys |