Linked Data
ClinVar Variation Id:
2137268
dbSNP Id:
rs267606706
gnomAD v4:
11-119278181-T-G
COSMIC:
COSM34053
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119278181T>G , CM000673.2:g.119278181T>G | GRCh38 |
| NC_000011.9:g.119148891T>G , CM000673.1:g.119148891T>G | GRCh37 |
| NC_000011.8:g.118654101T>G | NCBI36 |
| NG_016808.1:g.76902T>G , LRG_608:g.76902T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700472.1:c.*563T>G | ENSP00000515005.1:n.*563T>G | |
| ENST00000264033.6:c.1111T>G MANE Select | ENSP00000264033.3:p.Tyr371Asp | |
| ENST00000637974.1:c.1105T>G | ENSP00000490763.1:p.Tyr369Asp | |
| ENST00000264033.5:c.1111T>G | ENSP00000264033.3:p.Tyr371Asp | |
| ENST00000634586.1:c.1111T>G | ENSP00000489218.1:p.Tyr371Asp | |
| ENST00000634840.1:c.1111T>G | ENSP00000489324.1:p.Tyr371Asp | |
| NM_005188.3:c.1111T>G , LRG_608t1:c.1111T>G | NP_005179.2:p.Tyr371Asp | |
| XM_011543057.1:c.1111T>G | XP_011541359.1:p.Tyr371Asp | |
| NM_005188.4:c.1111T>G MANE Select | NP_005179.2:p.Tyr371Asp |