Linked Data
ClinVar Variation Id:
40162
ClinVar RCV Id:
RCV000033177
dbSNP Id:
rs397514644
gnomAD v3:
14-104780190-G-A
gnomAD v4:
14-104780190-G-A
COSMIC:
COSM5991557
PubMed:
PMID:23246288
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104780190G>A , CM000676.2:g.104780190G>A | GRCh38 |
| NC_000014.8:g.105246527G>A , CM000676.1:g.105246527G>A | GRCh37 |
| NC_000014.7:g.104317572G>A | NCBI36 |
| NG_012188.1:g.20555C>T , LRG_721:g.20555C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554192.6:c.73C>T | ENSP00000450681.3:p.Arg25Cys | |
| ENST00000554585.6:c.73C>T | ENSP00000481526.2:p.Arg25Cys | |
| ENST00000555458.6:c.73C>T | ENSP00000451470.3:p.Arg25Cys | |
| ENST00000553797.2:c.73C>T | ENSP00000507566.1:p.Arg25Cys | |
| ENST00000554826.2:n.211C>T | ||
| ENST00000610370.2:n.211C>T | ||
| ENST00000682269.1:n.590C>T | ||
| ENST00000683722.1:c.73C>T | ENSP00000507879.1:p.Arg25Cys | |
| ENST00000407796.7:c.73C>T | ENSP00000384293.2:p.Arg25Cys | |
| ENST00000649815.2:c.73C>T MANE Select | ENSP00000497822.1:p.Arg25Cys | |
| ENST00000349310.7:c.73C>T | ENSP00000270202.4:p.Arg25Cys | |
| ENST00000402615.6:c.73C>T | ENSP00000385326.2:p.Arg25Cys | |
| ENST00000407796.6:c.73C>T | ENSP00000384293.2:p.Arg25Cys | |
| ENST00000554581.5:c.73C>T | ENSP00000451828.1:p.Arg25Cys | |
| ENST00000554848.5:c.73C>T | ENSP00000451166.1:p.Arg25Cys | |
| ENST00000555380.1:n.104C>T | ||
| ENST00000555528.5:c.73C>T | ENSP00000450688.1:p.Arg25Cys | |
| ENST00000555926.1:c.73C>T | ENSP00000451824.1:p.Arg25Cys | |
| NM_001014431.1:c.73C>T | NP_001014431.1:p.Arg25Cys | |
| NM_001014432.1:c.73C>T , LRG_721t1:c.73C>T | NP_001014432.1:p.Arg25Cys | |
| NM_005163.2:c.73C>T , LRG_721t2:c.73C>T | NP_005154.2:p.Arg25Cys | |
| XM_005267401.1:c.73C>T | XP_005267458.1:p.Arg25Cys | |
| XM_011536543.1:c.73C>T | XP_011534845.1:p.Arg25Cys | |
| XM_011536544.1:c.73C>T | XP_011534846.1:p.Arg25Cys | |
| XR_002957536.1:n.273C>T | ||
| NM_001014431.2:c.73C>T | NP_001014431.1:p.Arg25Cys | |
| NM_001014432.2:c.73C>T | NP_001014432.1:p.Arg25Cys | |
| NM_001382430.1:c.73C>T MANE Select | NP_001369359.1:p.Arg25Cys | |
| NM_001382431.1:c.73C>T | NP_001369360.1:p.Arg25Cys | |
| NM_001382432.1:c.73C>T | NP_001369361.1:p.Arg25Cys | |
| NM_001382433.1:c.73C>T | NP_001369362.1:p.Arg25Cys |