Linked Data
ClinVar Variation Id:
13995
ClinVar RCV Id:
RCV000015032
dbSNP Id:
rs104894455
ExAC:
14:20940525 C / T
gnomAD v2:
14-20940525-C-T
gnomAD v4:
14-20472366-C-T
PubMed:
PMID:9737781
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20472366C>T , CM000676.2:g.20472366C>T | GRCh38 |
| NC_000014.8:g.20940525C>T , CM000676.1:g.20940525C>T | GRCh37 |
| NC_000014.7:g.20010365C>T | NCBI36 |
| NG_009631.1:g.7984C>T , LRG_91:g.7984C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553591.2:c.187C>T | ENSP00000452421.2:p.Arg63Ter | |
| ENST00000556293.6:n.189C>T | ||
| ENST00000556754.2:n.1132C>T | ||
| ENST00000557229.6:n.189C>T | ||
| ENST00000697613.1:c.70C>T | ENSP00000513359.1:p.Arg24Ter | |
| ENST00000697614.1:c.-168C>T | ENSP00000513360.1:n.-168C>T | |
| ENST00000697615.1:n.588C>T | ||
| ENST00000361505.10:c.70C>T MANE Select | ENSP00000354532.6:p.Arg24Ter | |
| ENST00000361505.9:c.70C>T | ENSP00000354532.5:p.Arg24Ter | |
| ENST00000553418.5:c.70C>T | ENSP00000450663.1:p.Arg24Ter | |
| ENST00000553591.1:c.187C>T | ENSP00000452421.1:p.Arg63Ter | |
| ENST00000554056.5:n.181C>T | ||
| ENST00000554065.1:c.-168C>T | ENSP00000451108.1:n.-168C>T | |
| ENST00000556293.5:n.189C>T | ||
| ENST00000557229.5:n.189C>T | ||
| NM_000270.3:c.70C>T , LRG_91t1:c.70C>T | NP_000261.2:p.Arg24Ter | |
| NM_000270.4:c.70C>T MANE Select | NP_000261.2:p.Arg24Ter |