Linked Data
ClinVar Variation Id:
210032
dbSNP Id:
rs778479139
ExAC:
20:744581 G / A
gnomAD v2:
20-744581-G-A
gnomAD v3:
20-763937-G-A
gnomAD v4:
20-763937-G-A
PubMed:
PMID:26072523
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.763937G>A , CM000682.2:g.763937G>A | GRCh38 |
| NC_000020.10:g.744581G>A , CM000682.1:g.744581G>A | GRCh37 |
| NC_000020.9:g.692581G>A | NCBI36 |
| NG_027687.1:g.9648C>T | |
| NG_027687.2:g.17049C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381944.5:c.634C>T | ENSP00000371370.3:p.Arg212Cys | |
| ENST00000473664.2:c.567+1271C>T | ENSP00000502741.1:n.567+1271C>T | |
| ENST00000488495.3:c.634C>T | ENSP00000494009.1:p.Arg212Cys | |
| ENST00000645534.1:c.634C>T MANE Select | ENSP00000494193.1:p.Arg212Cys | |
| ENST00000675066.1:c.634C>T | ENSP00000501902.1:p.Arg212Cys | |
| ENST00000676154.1:c.634C>T | ENSP00000501807.1:p.Arg212Cys | |
| ENST00000217254.11:c.634C>T | ENSP00000217254.7:p.Arg212Cys | |
| ENST00000381944.4:c.634C>T | ENSP00000371370.3:p.Arg212Cys | |
| ENST00000473664.1:n.618+1271C>T | ||
| ENST00000632431.1:c.634C>T | ENSP00000488723.1:p.Arg212Cys | |
| NM_033409.3:c.634C>T | NP_212134.3:p.Arg212Cys | |
| XM_005260655.3:c.634C>T | XP_005260712.1:p.Arg212Cys | |
| XM_011529148.1:c.634C>T | XP_011527450.1:p.Arg212Cys | |
| XM_005260655.4:c.634C>T | XP_005260712.1:p.Arg212Cys | |
| XM_024451821.1:c.634C>T | XP_024307589.1:p.Arg212Cys | |
| NM_033409.4:c.634C>T MANE Select | NP_212134.3:p.Arg212Cys | |
| NM_001370085.1:c.634C>T | NP_001357014.1:p.Arg212Cys | |
| NM_001370086.1:c.634C>T | NP_001357015.1:p.Arg212Cys |