Linked Data
ClinVar Variation Id:
7635
ClinVar RCV Id:
RCV000008074
dbSNP Id:
rs104894663
gnomAD v3:
18-59272465-G-A
gnomAD v4:
18-59272465-G-A
PubMed:
PMID:14662654
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59272465G>A , CM000680.2:g.59272465G>A | GRCh38 |
| NC_000018.9:g.56939697G>A , CM000680.1:g.56939697G>A | GRCh37 |
| NC_000018.8:g.55090677G>A | NCBI36 |
| NG_013031.1:g.5929C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334889.4:c.439C>T MANE Select | ENSP00000334813.3:p.Gln147Ter | |
| ENST00000256852.7:c.289+453C>T | ENSP00000256852.7:n.289+453C>T | |
| ENST00000334889.3:c.439C>T | ENSP00000334813.3:p.Gln147Ter | |
| ENST00000591550.1:n.456C>T | ||
| NM_013435.2:c.439C>T | NP_038463.2:p.Gln147Ter | |
| NM_013435.3:c.439C>T MANE Select | NP_038463.2:p.Gln147Ter |