Linked Data
ClinVar Variation Id:
1329019
ClinVar RCV Id:
RCV001797910
dbSNP Id:
rs1388592245
gnomAD v3:
11-119278526-G-T
gnomAD v4:
11-119278526-G-T
COSMIC:
COSM34061
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119278526G>T , CM000673.2:g.119278526G>T | GRCh38 |
| NC_000011.9:g.119149236G>T , CM000673.1:g.119149236G>T | GRCh37 |
| NC_000011.8:g.118654446G>T | NCBI36 |
| NG_016808.1:g.77247G>T , LRG_608:g.77247G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*696G>T | ENSP00000515005.1:n.*696G>T | |
| ENST00000264033.6:c.1244G>T MANE Select | ENSP00000264033.3:p.Gly415Val | |
| ENST00000637974.1:c.1238G>T | ENSP00000490763.1:p.Gly413Val | |
| ENST00000264033.5:c.1244G>T | ENSP00000264033.3:p.Gly415Val | |
| ENST00000634586.1:c.1244G>T | ENSP00000489218.1:p.Gly415Val | |
| ENST00000634840.1:c.1244G>T | ENSP00000489324.1:p.Gly415Val | |
| NM_005188.3:c.1244G>T , LRG_608t1:c.1244G>T | NP_005179.2:p.Gly415Val | |
| XM_011543057.1:c.1244G>T | XP_011541359.1:p.Gly415Val | |
| NM_005188.4:c.1244G>T MANE Select | NP_005179.2:p.Gly415Val |