Linked Data
ClinVar Variation Id:
390238
ClinVar RCV Id:
RCV000444777
dbSNP Id:
rs201179294
ExAC:
6:143800292 C / T
gnomAD v2:
6-143800292-C-T
gnomAD v4:
6-143479155-C-T
PubMed:
PMID:27557811
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143479155C>T , CM000668.2:g.143479155C>T | GRCh38 |
| NC_000006.11:g.143800292C>T , CM000668.1:g.143800292C>T | GRCh37 |
| NC_000006.10:g.143841985C>T | NCBI36 |
| NG_008459.1:g.33375C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.898C>T MANE Select | ENSP00000356563.4:p.Arg300Ter | |
| ENST00000367591.4:c.898C>T | ENSP00000356563.4:p.Arg300Ter | |
| NM_003630.2:c.898C>T | NP_003621.1:p.Arg300Ter | |
| NM_003630.3:c.898C>T MANE Select | NP_003621.1:p.Arg300Ter |