Linked Data
ClinVar Variation Id:
11330
ClinVar RCV Id:
RCV000012083
dbSNP Id:
rs104894944
PubMed:
PMID:11559848
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.80023236G>T , CM000685.2:g.80023236G>T | GRCh38 |
| NC_000023.10:g.79278735G>T , CM000685.1:g.79278735G>T | GRCh37 |
| NC_000023.9:g.79165391G>T | NCBI36 |
| NG_008998.1:g.13481G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373296.8:c.352G>T MANE Select | ENSP00000362393.3:p.Gly118Cys | |
| ENST00000373294.8:c.352G>T | ENSP00000362390.5:p.Gly118Cys | |
| ENST00000373296.7:c.352G>T | ENSP00000362393.3:p.Gly118Cys | |
| ENST00000626498.2:c.352G>T | ENSP00000487527.1:p.Gly118Cys | |
| ENST00000626877.1:n.168G>T | ||
| NM_001109878.1:c.352G>T | NP_001103348.1:p.Gly118Cys | |
| NM_001109879.1:c.-5G>T | NP_001103349.1:n.-5G>T | |
| NM_001303475.1:c.-72G>T | NP_001290404.1:n.-72G>T | |
| NM_016954.2:c.352G>T | NP_058650.1:p.Gly118Cys | |
| XM_005262136.2:c.355G>T | XP_005262193.1:p.Gly119Cys | |
| XM_006724657.2:c.355G>T | XP_006724720.1:p.Gly119Cys | |
| XM_011530972.1:c.-72G>T | XP_011529274.1:n.-72G>T | |
| NM_001109878.2:c.352G>T MANE Select | NP_001103348.1:p.Gly118Cys | |
| NM_001109879.2:c.-5G>T | NP_001103349.1:n.-5G>T |