Linked Data
ClinVar Variation Id:
13774
ClinVar RCV Id:
RCV000014784
dbSNP Id:
rs28933972
gnomAD v4:
14-36662968-C-T
COSMIC:
COSM39639
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36662968C>T , CM000676.2:g.36662968C>T | GRCh38 |
| NC_000014.8:g.37132173C>T , CM000676.1:g.37132173C>T | GRCh37 |
| NC_000014.7:g.36201924C>T | NCBI36 |
| NG_013357.1:g.10401C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361487.7:c.76C>T MANE Select | ENSP00000355245.6:p.Arg26Trp | |
| ENST00000555639.2:c.76C>T | ENSP00000501203.1:p.Arg26Trp | |
| ENST00000361487.6:c.76C>T | ENSP00000355245.6:p.Arg26Trp | |
| ENST00000402703.6:c.76C>T | ENSP00000384817.2:p.Arg26Trp | |
| ENST00000554201.1:c.-486C>T | ENSP00000450434.1:n.-486C>T | |
| ENST00000555639.1:n.378C>T | ||
| NM_006194.3:c.76C>T | NP_006185.1:p.Arg26Trp | |
| NM_001372076.1:c.76C>T MANE Select | NP_001359005.1:p.Arg26Trp | |
| NM_006194.4:c.76C>T | NP_006185.1:p.Arg26Trp |