Linked Data
ClinVar Variation Id:
18412
ClinVar RCV Id:
RCV000001043
dbSNP Id:
rs267607098
gnomAD v2:
2-84668454-G-A
PubMed:
PMID:20693550
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84441330G>A , CM000664.2:g.84441330G>A | GRCh38 |
| NC_000002.11:g.84668454G>A , CM000664.1:g.84668454G>A | GRCh37 |
| NC_000002.10:g.84521965G>A | NCBI36 |
| NG_016755.1:g.23133C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393868.7:c.448C>T MANE Select | ENSP00000377446.2:p.Gln150Ter | |
| ENST00000651342.1:c.448C>T | ENSP00000498471.1:p.Gln150Ter | |
| ENST00000393868.6:c.448C>T | ENSP00000377446.2:p.Gln150Ter | |
| ENST00000430989.1:n.488C>T | ||
| ENST00000442240.5:c.459C>T | ||
| ENST00000483605.5:n.527C>T | ||
| ENST00000491642.5:n.620C>T | ||
| NM_003849.3:c.448C>T | NP_003840.2:p.Gln150Ter | |
| NM_003849.4:c.448C>T MANE Select | NP_003840.2:p.Gln150Ter |