Linked Data
ClinVar Variation Id:
214543
dbSNP Id:
rs140540222
ExAC:
5:140075141 C / T
gnomAD v2:
5-140075141-C-T
gnomAD v3:
5-140695556-C-T
gnomAD v4:
5-140695556-C-T
COSMIC:
COSM1061758
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140695556C>T , CM000667.2:g.140695556C>T | GRCh38 |
| NC_000005.9:g.140075141C>T , CM000667.1:g.140075141C>T | GRCh37 |
| NC_000005.8:g.140055325C>T | NCBI36 |
| NG_021415.1:g.9124C>T | |
| NG_032158.1:g.831G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000230771.9:c.448C>T MANE Select | ENSP00000230771.3:p.Arg150Cys | |
| ENST00000503873.6:c.304-182C>T | ENSP00000424516.2:n.304-182C>T | |
| ENST00000509299.6:c.238C>T | ENSP00000425695.2:p.Arg80Cys | |
| ENST00000520095.6:c.*104-182C>T | ENSP00000429220.1:n.*104-182C>T | |
| ENST00000642452.1:c.414C>T | ||
| ENST00000642752.1:c.448C>T | ENSP00000493630.1:p.Arg150Cys | |
| ENST00000642970.1:c.238C>T | ENSP00000496011.1:p.Arg80Cys | |
| ENST00000643996.1:c.238C>T | ENSP00000495350.1:p.Arg80Cys | |
| ENST00000645065.1:c.466C>T | ENSP00000493571.1:p.Arg156Cys | |
| ENST00000645749.1:c.448C>T | ENSP00000494296.1:p.Arg150Cys | |
| ENST00000646468.1:c.466C>T | ENSP00000494965.1:p.Arg156Cys | |
| ENST00000647484.1:c.238C>T | ENSP00000494140.1:p.Arg80Cys | |
| ENST00000230771.7:c.448C>T | ENSP00000230771.3:p.Arg150Cys | |
| ENST00000448069.2:c.109-182C>T | ENSP00000407105.2:n.109-182C>T | |
| ENST00000502303.5:n.531C>T | ||
| ENST00000508522.5:c.373C>T | ENSP00000423616.1:p.Arg125Cys | |
| ENST00000509299.5:c.466C>T | ENSP00000425695.1:p.Arg156Cys | |
| ENST00000510104.5:c.*248C>T | ENSP00000423530.1:n.*248C>T | |
| ENST00000513688.1:n.455C>T | ||
| ENST00000520095.5:c.*104-182C>T | ENSP00000429220.1:n.*104-182C>T | |
| NM_001278731.1:c.373C>T | NP_001265660.1:p.Arg125Cys | |
| NM_001278732.1:c.94-182C>T | NP_001265661.1:n.94-182C>T | |
| NM_012208.3:c.448C>T | NP_036340.1:p.Arg150Cys | |
| XM_011537619.1:c.466C>T | XP_011535921.1:p.Arg156Cys | |
| XM_011537620.1:c.466C>T | XP_011535922.1:p.Arg156Cys | |
| NM_001363535.1:c.466C>T | NP_001350464.1:p.Arg156Cys | |
| NM_001363536.1:c.238C>T | NP_001350465.1:p.Arg80Cys | |
| XM_017009288.1:c.238C>T | XP_016864777.1:p.Arg80Cys | |
| XM_017009289.1:c.238C>T | XP_016864778.1:p.Arg80Cys | |
| XM_017009290.2:c.-287C>T | XP_016864779.1:n.-287C>T | |
| XM_017009291.1:c.-287C>T | XP_016864780.1:n.-287C>T | |
| XM_017009292.1:c.-287C>T | XP_016864781.1:n.-287C>T | |
| NM_012208.4:c.448C>T MANE Select | NP_036340.1:p.Arg150Cys | |
| NM_001278731.2:c.373C>T | NP_001265660.1:p.Arg125Cys | |
| NM_001278732.2:c.94-182C>T | NP_001265661.1:n.94-182C>T | |
| NM_001363535.2:c.466C>T | NP_001350464.1:p.Arg156Cys | |
| NM_001363536.2:c.238C>T | NP_001350465.1:p.Arg80Cys |