Linked Data
ClinVar Variation Id:
2625335
ClinVar RCV Id:
RCV003380094
dbSNP Id:
rs730880141
gnomAD v4:
11-47332105-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332105C>G , CM000673.2:g.47332105C>G | GRCh38 |
| NC_000011.9:g.47353656C>G , CM000673.1:g.47353656C>G | GRCh37 |
| NC_000011.8:g.47310232C>G | NCBI36 |
| NG_007667.1:g.25598G>C , LRG_386:g.25598G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3781G>C MANE Select | ENSP00000442795.1:p.Glu1261Gln | |
| ENST00000256993.8:c.3781G>C | ENSP00000256993.5:p.Glu1261Gln | |
| ENST00000399249.6:c.3781G>C | ENSP00000382193.2:p.Glu1261Gln | |
| ENST00000545968.5:c.3781G>C | ENSP00000442795.1:p.Glu1261Gln | |
| NM_000256.3:c.3781G>C , LRG_386t1:c.3781G>C MANE Select | NP_000247.2:p.Glu1261Gln | |
| XM_011520117.1:c.3763G>C | XP_011518419.1:p.Glu1255Gln | |
| XM_011520118.1:c.3700G>C | XP_011518420.1:p.Glu1234Gln |