Linked Data
ClinVar Variation Id:
1492
ClinVar RCV Id:
RCV000001557
dbSNP Id:
rs118204028
gnomAD v4:
22-37723445-C-T
PubMed:
PMID:16385457
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37723445C>T , CM000684.2:g.37723445C>T | GRCh38 |
| NC_000022.10:g.38119452C>T , CM000684.1:g.38119452C>T | GRCh37 |
| NC_000022.9:g.36449398C>T | NCBI36 |
| NG_012857.1:g.31458C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644935.1:c.889C>T MANE Select | ENSP00000496394.1:p.Gln297Ter | |
| ENST00000344404.10:c.*372C>T | ENSP00000340312.6:n.*372C>T | |
| ENST00000406386.7:c.889C>T | ENSP00000384312.3:p.Gln297Ter | |
| ENST00000455236.4:c.1846C>T | ENSP00000477208.1:n.1846C>T | |
| ENST00000492485.5:n.823C>T | ||
| NM_001039141.2:c.889C>T | NP_001034230.1:p.Gln297Ter | |
| NM_001039141.3:c.889C>T MANE Select | NP_001034230.1:p.Gln297Ter |