Linked Data
ClinVar Variation Id:
823446
dbSNP Id:
rs765927395
ExAC:
11:67258444 C / T
gnomAD v2:
11-67258444-C-T
gnomAD v3:
11-67490973-C-T
gnomAD v4:
11-67490973-C-T
COSMIC:
COSM6228597
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490973C>T , CM000673.2:g.67490973C>T | GRCh38 |
| NC_000011.9:g.67258444C>T , CM000673.1:g.67258444C>T | GRCh37 |
| NC_000011.8:g.67015020C>T | NCBI36 |
| NG_008969.1:g.12940C>T , LRG_460:g.12940C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.1280C>T | ||
| ENST00000528641.7:c.784C>T | ENSP00000434982.3:p.Arg262Trp | |
| ENST00000529797.2:n.1815C>T | ||
| ENST00000682324.1:c.469-24C>T | ENSP00000508017.1:n.469-24C>T | |
| ENST00000682659.1:c.604C>T | ENSP00000507351.1:p.Arg202Trp | |
| ENST00000683237.1:c.*113C>T | ENSP00000507343.1:n.*113C>T | |
| ENST00000683856.1:c.796C>T | ENSP00000507979.1:p.Arg266Trp | |
| ENST00000684006.1:c.*113C>T | ENSP00000507269.1:n.*113C>T | |
| ENST00000684657.1:c.793C>T | ENSP00000507961.1:p.Arg265Trp | |
| ENST00000279146.8:c.973C>T MANE Select | ENSP00000279146.3:p.Arg325Trp | |
| ENST00000279146.7:c.973C>T | ENSP00000279146.3:p.Arg325Trp | |
| NM_001302959.1:c.796C>T | NP_001289888.1:p.Arg266Trp | |
| NM_001302960.1:c.*113C>T | NP_001289889.1:n.*113C>T | |
| NM_003977.3:c.973C>T | NP_003968.3:p.Arg325Trp | |
| XM_024448761.1:c.973C>T | XP_024304529.1:p.Arg325Trp | |
| NM_003977.4:c.973C>T MANE Select | NP_003968.3:p.Arg325Trp | |
| NM_001302960.2:c.*113C>T | NP_001289889.1:n.*113C>T | |
| NM_001302959.2:c.796C>T | NP_001289888.1:p.Arg266Trp |