Linked Data
ClinVar Variation Id:
532539
ClinVar RCV Id:
RCV000639375
dbSNP Id:
rs1271900425
gnomAD v4:
11-61446023-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61446023G>A , CM000673.2:g.61446023G>A | GRCh38 |
| NC_000011.9:g.61213495G>A , CM000673.1:g.61213495G>A | GRCh37 |
| NC_000011.8:g.60970071G>A | NCBI36 |
| NG_023393.1:g.20899G>A , LRG_519:g.20899G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.453G>A MANE Select | ENSP00000301761.3:p.Gln151= | |
| ENST00000301761.6:c.453G>A | ENSP00000301761.2:p.Gln151= | |
| ENST00000536670.5:n.396+7910G>A | ||
| ENST00000537782.5:c.*99G>A | ENSP00000469951.1:n.*99G>A | |
| ENST00000538594.5:c.370+7910G>A | ENSP00000440939.1:n.370+7910G>A | |
| ENST00000541135.5:c.377+7903G>A | ENSP00000443130.1:n.377+7903G>A | |
| ENST00000542074.1:c.*32G>A | ENSP00000469670.1:n.*32G>A | |
| ENST00000542794.5:c.*455G>A | ENSP00000439983.1:n.*455G>A | |
| ENST00000543044.2:c.417G>A | ENSP00000440219.1:p.Gln139= | |
| ENST00000543265.1:c.*76G>A | ENSP00000443660.1:n.*76G>A | |
| ENST00000544025.5:n.465+7910G>A | ||
| ENST00000544801.5:c.370+7910G>A | ENSP00000442581.1:n.370+7910G>A | |
| ENST00000544880.1:n.374+7910G>A | ||
| NM_017841.2:c.453G>A , LRG_519t1:c.453G>A | NP_060311.1:p.Gln151= | |
| NM_017841.4:c.453G>A MANE Select | NP_060311.1:p.Gln151= |