Linked Data
ClinVar Variation Id:
29846
dbSNP Id:
rs387906674
ExAC:
3:93611869 G / A
gnomAD v2:
3-93611869-G-A
gnomAD v4:
3-93893025-G-A
COSMIC:
COSM1309509
PubMed:
PMID:21172841
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93893025G>A , CM000665.2:g.93893025G>A | GRCh38 |
| NC_000003.11:g.93611869G>A , CM000665.1:g.93611869G>A | GRCh37 |
| NC_000003.10:g.95094559G>A | NCBI36 |
| NG_009813.1:g.86066C>T , LRG_572:g.86066C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1063C>T | ENSP00000330021.7:p.Arg355Cys | |
| ENST00000394236.9:c.1063C>T MANE Select | ENSP00000377783.3:p.Arg355Cys | |
| ENST00000407433.6:c.1018C>T | ENSP00000385794.2:p.Arg340Cys | |
| ENST00000647936.1:c.1063C>T | ENSP00000496822.1:p.Arg355Cys | |
| ENST00000648381.1:n.1231C>T | ||
| ENST00000648853.1:c.1021C>T | ENSP00000497262.1:p.Arg341Cys | |
| ENST00000649103.1:c.1162C>T | ENSP00000497962.1:n.1162C>T | |
| ENST00000650591.1:c.1159C>T | ENSP00000497376.1:p.Arg387Cys | |
| ENST00000394236.7:c.1063C>T | ENSP00000377783.3:p.Arg355Cys | |
| ENST00000407433.5:c.670C>T | ENSP00000385794.1:p.Arg224Cys | |
| NM_000313.3:c.1063C>T , LRG_572t1:c.1063C>T | NP_000304.2:p.Arg355Cys | |
| NM_001314077.1:c.1159C>T , LRG_572t2:c.1159C>T | NP_001301006.1:p.Arg387Cys | |
| NM_000313.4:c.1063C>T MANE Select | NP_000304.2:p.Arg355Cys | |
| NM_001314077.2:c.1159C>T | NP_001301006.1:p.Arg387Cys |