Linked Data
ClinVar Variation Id:
1968690
ClinVar RCV Id:
RCV002711982
dbSNP Id:
rs1949907918
gnomAD v4:
11-119278528-T-C
COSMIC:
COSM1724993
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119278528T>C , CM000673.2:g.119278528T>C | GRCh38 |
| NC_000011.9:g.119149238T>C , CM000673.1:g.119149238T>C | GRCh37 |
| NC_000011.8:g.118654448T>C | NCBI36 |
| NG_016808.1:g.77249T>C , LRG_608:g.77249T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*698T>C | ENSP00000515005.1:n.*698T>C | |
| ENST00000264033.6:c.1246T>C MANE Select | ENSP00000264033.3:p.Cys416Arg | |
| ENST00000637974.1:c.1240T>C | ENSP00000490763.1:p.Cys414Arg | |
| ENST00000264033.5:c.1246T>C | ENSP00000264033.3:p.Cys416Arg | |
| ENST00000634586.1:c.1246T>C | ENSP00000489218.1:p.Cys416Arg | |
| ENST00000634840.1:c.1246T>C | ENSP00000489324.1:p.Cys416Arg | |
| NM_005188.3:c.1246T>C , LRG_608t1:c.1246T>C | NP_005179.2:p.Cys416Arg | |
| XM_011543057.1:c.1246T>C | XP_011541359.1:p.Cys416Arg | |
| NM_005188.4:c.1246T>C MANE Select | NP_005179.2:p.Cys416Arg |