Linked Data
ClinVar Variation Id:
156562
dbSNP Id:
rs141090506
ExAC:
20:5294763 G / A
gnomAD v2:
20-5294763-G-A
gnomAD v3:
20-5314117-G-A
gnomAD v4:
20-5314117-G-A
COSMIC:
COSM72301
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5314117G>A , CM000682.2:g.5314117G>A | GRCh38 |
| NC_000020.10:g.5294763G>A , CM000682.1:g.5294763G>A | GRCh37 |
| NC_000020.9:g.5242763G>A | NCBI36 |
| NG_008132.1:g.5253C>T | |
| NG_008132.2:g.5253C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217270.4:c.253C>T | ENSP00000217270.3:p.Arg85Cys | |
| ENST00000678059.1:c.145C>T | ENSP00000503366.1:p.Arg49Cys | |
| ENST00000678254.1:c.253C>T MANE Select | ENSP00000504128.1:p.Arg85Cys | |
| ENST00000217270.3:c.253C>T | ENSP00000217270.3:p.Arg85Cys | |
| NM_144773.2:c.253C>T | NP_658986.1:p.Arg85Cys | |
| XM_005260663.2:c.253C>T | XP_005260720.1:p.Arg85Cys | |
| XM_011529159.1:c.145C>T | XP_011527461.1:p.Arg49Cys | |
| NM_144773.3:c.253C>T | NP_658986.1:p.Arg85Cys | |
| XM_017027646.1:c.253C>T | XP_016883135.1:p.Arg85Cys | |
| NM_144773.4:c.253C>T MANE Select | NP_658986.1:p.Arg85Cys |