Linked Data
ClinVar Variation Id:
1172218
ClinVar RCV Id:
RCV001525898
dbSNP Id:
rs730880578
gnomAD v4:
11-47335054-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47335054G>C , CM000673.2:g.47335054G>C | GRCh38 |
| NC_000011.9:g.47356605G>C , CM000673.1:g.47356605G>C | GRCh37 |
| NC_000011.8:g.47313181G>C | NCBI36 |
| NG_007667.1:g.22649C>G , LRG_386:g.22649C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2893C>G MANE Select | ENSP00000442795.1:p.Gln965Glu | |
| ENST00000256993.8:c.2893C>G | ENSP00000256993.5:p.Gln965Glu | |
| ENST00000399249.6:c.2893C>G | ENSP00000382193.2:p.Gln965Glu | |
| ENST00000545968.5:c.2893C>G | ENSP00000442795.1:p.Gln965Glu | |
| NM_000256.3:c.2893C>G , LRG_386t1:c.2893C>G MANE Select | NP_000247.2:p.Gln965Glu | |
| XM_011520117.1:c.2875C>G | XP_011518419.1:p.Gln959Glu | |
| XM_011520118.1:c.2812C>G | XP_011518420.1:p.Gln938Glu |