Linked Data
ClinVar Variation Id:
16853
ClinVar RCV Id:
RCV000018347
dbSNP Id:
rs121912985
PubMed:
PMID:11175779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87612186C>T , CM000666.2:g.87612186C>T | GRCh38 |
| NC_000004.11:g.88533338C>T , CM000666.1:g.88533338C>T | GRCh37 |
| NC_000004.10:g.88752362C>T | NCBI36 |
| NG_011595.1:g.8658C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.133C>T MANE Select | ENSP00000498766.1:p.Gln45Ter | |
| ENST00000282478.7:c.133C>T | ENSP00000282478.7:p.Gln45Ter | |
| ENST00000399271.5:c.133C>T | ENSP00000382213.1:p.Gln45Ter | |
| NM_014208.3:c.133C>T MANE Select | NP_055023.2:p.Gln45Ter |