Linked Data
ClinVar Variation Id:
1476348
ClinVar RCV Id:
RCV001977909
dbSNP Id:
rs1268484791
gnomAD v2:
11-119149232-C-G
gnomAD v3:
11-119278522-C-G
gnomAD v4:
11-119278522-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119278522C>G , CM000673.2:g.119278522C>G | GRCh38 |
| NC_000011.9:g.119149232C>G , CM000673.1:g.119149232C>G | GRCh37 |
| NC_000011.8:g.118654442C>G | NCBI36 |
| NG_016808.1:g.77243C>G , LRG_608:g.77243C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*692C>G | ENSP00000515005.1:n.*692C>G | |
| ENST00000264033.6:c.1240C>G MANE Select | ENSP00000264033.3:p.Gln414Glu | |
| ENST00000637974.1:c.1234C>G | ENSP00000490763.1:p.Gln412Glu | |
| ENST00000264033.5:c.1240C>G | ENSP00000264033.3:p.Gln414Glu | |
| ENST00000634586.1:c.1240C>G | ENSP00000489218.1:p.Gln414Glu | |
| ENST00000634840.1:c.1240C>G | ENSP00000489324.1:p.Gln414Glu | |
| NM_005188.3:c.1240C>G , LRG_608t1:c.1240C>G | NP_005179.2:p.Gln414Glu | |
| XM_011543057.1:c.1240C>G | XP_011541359.1:p.Gln414Glu | |
| NM_005188.4:c.1240C>G MANE Select | NP_005179.2:p.Gln414Glu |