Linked Data
ClinVar Variation Id:
264451
dbSNP Id:
rs145854903
gnomAD v2:
9-71650816-C-T
gnomAD v3:
9-69035900-C-T
gnomAD v4:
9-69035900-C-T
PubMed:
PMID:15936968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69035900C>T , CM000671.2:g.69035900C>T | GRCh38 |
| NC_000009.11:g.71650816C>T , CM000671.1:g.71650816C>T | GRCh37 |
| NC_000009.10:g.70840636C>T | NCBI36 |
| NG_008845.2:g.5338C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484259.3:c.118C>T MANE Select | ENSP00000419243.2:p.Arg40Cys | |
| ENST00000642330.1:c.118C>T | ENSP00000493770.1:p.Arg40Cys | |
| ENST00000642889.1:c.118C>T | ENSP00000493780.1:p.Arg40Cys | |
| ENST00000643352.1:c.118C>T | ENSP00000496488.1:p.Arg40Cys | |
| ENST00000643765.1:c.116C>T | ||
| ENST00000644653.1:c.118C>T | ENSP00000495217.1:p.Arg40Cys | |
| ENST00000644977.1:c.118C>T | ENSP00000495651.1:p.Arg40Cys | |
| ENST00000645088.1:c.118C>T | ENSP00000495447.1:p.Arg40Cys | |
| ENST00000646862.1:c.118C>T | ENSP00000494599.1:p.Arg40Cys | |
| ENST00000377270.7:c.118C>T | ENSP00000366482.3:p.Arg40Cys | |
| ENST00000396364.7:c.118C>T | ENSP00000379650.3:p.Arg40Cys | |
| ENST00000396366.6:c.118C>T | ENSP00000379652.2:p.Arg40Cys | |
| NM_000144.4:c.118C>T | NP_000135.2:p.Arg40Cys | |
| NM_001161706.1:c.118C>T | NP_001155178.1:p.Arg40Cys | |
| NM_181425.2:c.118C>T | NP_852090.1:p.Arg40Cys | |
| NM_000144.5:c.118C>T MANE Select | NP_000135.2:p.Arg40Cys | |
| NM_181425.3:c.118C>T | NP_852090.1:p.Arg40Cys |