Linked Data
ClinVar Variation Id:
1495
dbSNP Id:
rs118204031
gnomAD v2:
22-38121912-C-T
gnomAD v3:
22-37725905-C-T
gnomAD v4:
22-37725905-C-T
PubMed:
PMID:16385457
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37725905C>T , CM000684.2:g.37725905C>T | GRCh38 |
| NC_000022.10:g.38121912C>T , CM000684.1:g.38121912C>T | GRCh37 |
| NC_000022.9:g.36451858C>T | NCBI36 |
| NG_012857.1:g.33918C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.3349C>T MANE Select | ENSP00000496394.1:p.Arg1117Ter | |
| ENST00000344404.10:c.*2832C>T | ENSP00000340312.6:n.*2832C>T | |
| ENST00000406386.7:c.3349C>T | ENSP00000384312.3:p.Arg1117Ter | |
| ENST00000455236.4:c.4306C>T | ENSP00000477208.1:n.4306C>T | |
| ENST00000492485.5:n.3283C>T | ||
| NM_001039141.2:c.3349C>T | NP_001034230.1:p.Arg1117Ter | |
| NM_001039141.3:c.3349C>T MANE Select | NP_001034230.1:p.Arg1117Ter |