Linked Data
ClinVar Variation Id:
1154810
ClinVar RCV Id:
RCV001496936
dbSNP Id:
rs1468372406
gnomAD v2:
11-2790122-G-A
gnomAD v4:
11-2768892-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2768892G>A , CM000673.2:g.2768892G>A | GRCh38 |
| NC_000011.9:g.2790122G>A , CM000673.1:g.2790122G>A | GRCh37 |
| NC_000011.8:g.2746698G>A | NCBI36 |
| NG_008935.1:g.328902G>A , LRG_287:g.328902G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1206G>A | ENSP00000434560.2:p.Gln402= | |
| ENST00000646564.2:c.1023G>A | ENSP00000495806.2:p.Gln341= | |
| ENST00000155840.12:c.1563G>A MANE Select | ENSP00000155840.2:p.Gln521= | |
| ENST00000335475.6:c.1182G>A | ENSP00000334497.5:p.Gln394= | |
| ENST00000646564.1:c.669G>A | ENSP00000495806.1:p.Gln223= | |
| ENST00000155840.9:c.1563G>A | ENSP00000155840.2:p.Gln521= | |
| ENST00000335475.5:c.1182G>A | ENSP00000334497.5:p.Gln394= | |
| NM_000218.2:c.1563G>A , LRG_287t1:c.1563G>A | NP_000209.2:p.Gln521= | |
| NM_181798.1:c.1182G>A , LRG_287t2:c.1182G>A | NP_861463.1:p.Gln394= | |
| NM_000218.3:c.1563G>A MANE Select | NP_000209.2:p.Gln521= |