Linked Data
ClinVar Variation Id:
538181
dbSNP Id:
rs56315533
ExAC:
2:29443676 G / A
gnomAD v2:
2-29443676-G-A
gnomAD v3:
2-29220810-G-A
gnomAD v4:
2-29220810-G-A
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220810G>A , CM000664.2:g.29220810G>A | GRCh38 |
| NC_000002.11:g.29443676G>A , CM000664.1:g.29443676G>A | GRCh37 |
| NC_000002.10:g.29297180G>A | NCBI36 |
| NG_009445.1:g.705757C>T , LRG_488:g.705757C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3541C>T MANE Select | ENSP00000373700.3:p.Arg1181Cys | |
| ENST00000431873.6:c.768C>T | ||
| ENST00000638605.1:n.418C>T | ||
| ENST00000642122.1:c.337C>T | ENSP00000493203.1:p.Arg113Cys | |
| ENST00000389048.7:c.3541C>T | ENSP00000373700.3:p.Arg1181Cys | |
| ENST00000431873.5:c.421C>T | ENSP00000414027.2:p.Arg141Cys | |
| ENST00000618119.4:c.2410C>T | ENSP00000482733.1:p.Arg804Cys | |
| NM_004304.4:c.3541C>T | NP_004295.2:p.Arg1181Cys | |
| NM_001353765.1:c.337C>T | NP_001340694.1:p.Arg113Cys | |
| XM_024452778.1:c.694C>T | XP_024308546.1:p.Arg232Cys | |
| XM_024452779.1:c.337C>T | XP_024308547.1:p.Arg113Cys | |
| NM_004304.5:c.3541C>T MANE Select | NP_004295.2:p.Arg1181Cys | |
| NM_001353765.2:c.337C>T | NP_001340694.1:p.Arg113Cys |