Linked Data
ClinVar Variation Id:
2041172
dbSNP Id:
rs746609116
ExAC:
2:208994188 G / A
gnomAD v2:
2-208994188-G-A
gnomAD v4:
2-208129464-G-A
COSMIC:
COSM2714641
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129464G>A , CM000664.2:g.208129464G>A | GRCh38 |
| NC_000002.11:g.208994188G>A , CM000664.1:g.208994188G>A | GRCh37 |
| NC_000002.10:g.208702433G>A | NCBI36 |
| NG_008038.1:g.5367C>T | |
| NG_008039.1:g.126C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.229C>T MANE Select | ENSP00000282141.3:p.Arg77Cys | |
| ENST00000282141.3:c.229C>T | ENSP00000282141.3:p.Arg77Cys | |
| NM_020989.3:c.229C>T | NP_066269.1:p.Arg77Cys | |
| NR_038437.1:n.98-7592G>A | ||
| XM_011510661.1:c.229C>T | XP_011508963.1:p.Arg77Cys | |
| XM_011510662.1:c.229C>T | XP_011508964.1:p.Arg77Cys | |
| XM_011510663.1:c.100C>T | XP_011508965.1:p.Arg34Cys | |
| NM_020989.4:c.229C>T MANE Select | NP_066269.1:p.Arg77Cys |