Linked Data
ClinVar Variation Id:
1517742
ClinVar RCV Id:
RCV002027574
dbSNP Id:
rs371679886
gnomAD v4:
11-119278519-G-A
COSMIC:
COSM4990133
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119278519G>A , CM000673.2:g.119278519G>A | GRCh38 |
| NC_000011.9:g.119149229G>A , CM000673.1:g.119149229G>A | GRCh37 |
| NC_000011.8:g.118654439G>A | NCBI36 |
| NG_016808.1:g.77240G>A , LRG_608:g.77240G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*689G>A | ENSP00000515005.1:n.*689G>A | |
| ENST00000264033.6:c.1237G>A MANE Select | ENSP00000264033.3:p.Gly413Ser | |
| ENST00000637974.1:c.1231G>A | ENSP00000490763.1:p.Gly411Ser | |
| ENST00000264033.5:c.1237G>A | ENSP00000264033.3:p.Gly413Ser | |
| ENST00000634586.1:c.1237G>A | ENSP00000489218.1:p.Gly413Ser | |
| ENST00000634840.1:c.1237G>A | ENSP00000489324.1:p.Gly413Ser | |
| NM_005188.3:c.1237G>A , LRG_608t1:c.1237G>A | NP_005179.2:p.Gly413Ser | |
| XM_011543057.1:c.1237G>A | XP_011541359.1:p.Gly413Ser | |
| NM_005188.4:c.1237G>A MANE Select | NP_005179.2:p.Gly413Ser |