Linked Data
ClinVar Variation Id:
1470652
ClinVar RCV Id:
RCV001973318
dbSNP Id:
rs1300630237
gnomAD v4:
11-61446018-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61446018G>C , CM000673.2:g.61446018G>C | GRCh38 |
| NC_000011.9:g.61213490G>C , CM000673.1:g.61213490G>C | GRCh37 |
| NC_000011.8:g.60970066G>C | NCBI36 |
| NG_023393.1:g.20894G>C , LRG_519:g.20894G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.448G>C MANE Select | ENSP00000301761.3:p.Glu150Gln | |
| ENST00000301761.6:c.448G>C | ENSP00000301761.2:p.Glu150Gln | |
| ENST00000536670.5:n.396+7905G>C | ||
| ENST00000537782.5:c.*94G>C | ENSP00000469951.1:n.*94G>C | |
| ENST00000538594.5:c.370+7905G>C | ENSP00000440939.1:n.370+7905G>C | |
| ENST00000541135.5:c.377+7898G>C | ENSP00000443130.1:n.377+7898G>C | |
| ENST00000542074.1:c.*27G>C | ENSP00000469670.1:n.*27G>C | |
| ENST00000542794.5:c.*450G>C | ENSP00000439983.1:n.*450G>C | |
| ENST00000543044.2:c.412G>C | ENSP00000440219.1:p.Glu138Gln | |
| ENST00000543265.1:c.*71G>C | ENSP00000443660.1:n.*71G>C | |
| ENST00000544025.5:n.465+7905G>C | ||
| ENST00000544801.5:c.370+7905G>C | ENSP00000442581.1:n.370+7905G>C | |
| ENST00000544880.1:n.374+7905G>C | ||
| NM_017841.2:c.448G>C , LRG_519t1:c.448G>C | NP_060311.1:p.Glu150Gln | |
| NM_017841.4:c.448G>C MANE Select | NP_060311.1:p.Glu150Gln |