Linked Data
ClinVar Variation Id:
281596
dbSNP Id:
rs759088490
ExAC:
4:123665067 C / T
gnomAD v2:
4-123665067-C-T
gnomAD v3:
4-122743912-C-T
gnomAD v4:
4-122743912-C-T
COSMIC:
COSM1671267
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122743912C>T , CM000666.2:g.122743912C>T | GRCh38 |
| NC_000004.11:g.123665067C>T , CM000666.1:g.123665067C>T | GRCh37 |
| NC_000004.10:g.123884517C>T | NCBI36 |
| NG_021203.1:g.16211C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314218.8:c.2020C>T MANE Select | ENSP00000319062.3:p.Arg674Cys | |
| ENST00000314218.7:c.2020C>T | ENSP00000319062.3:p.Arg674Cys | |
| ENST00000542236.5:c.2020C>T | ENSP00000438273.1:p.Arg674Cys | |
| NM_001178007.1:c.2020C>T | NP_001171478.1:p.Arg674Cys | |
| NM_152618.2:c.2020C>T | NP_689831.2:p.Arg674Cys | |
| XM_011531680.1:c.2020C>T | XP_011529982.1:p.Arg674Cys | |
| XM_011531680.2:c.2020C>T | XP_011529982.1:p.Arg674Cys | |
| XM_017007831.1:c.2020C>T | XP_016863320.1:p.Arg674Cys | |
| NM_152618.3:c.2020C>T MANE Select | NP_689831.2:p.Arg674Cys | |
| NM_001178007.2:c.2020C>T | NP_001171478.1:p.Arg674Cys |