Linked Data
ClinVar Variation Id:
268146
dbSNP Id:
rs886041078
gnomAD v2:
4-77084506-G-A
gnomAD v3:
4-76163353-G-A
gnomAD v4:
4-76163353-G-A
COSMIC:
COSM481518
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76163353G>A , CM000666.2:g.76163353G>A | GRCh38 |
| NC_000004.11:g.77084506G>A , CM000666.1:g.77084506G>A | GRCh37 |
| NC_000004.10:g.77303530G>A | NCBI36 |
| NG_012054.1:g.55530C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682785.1:n.1246C>T | ||
| ENST00000264896.8:c.1270C>T MANE Select | ENSP00000264896.2:p.Arg424Ter | |
| ENST00000511129.2:n.646C>T | ||
| ENST00000638295.1:c.796C>T | ENSP00000492288.1:p.Arg266Ter | |
| ENST00000638372.1:n.4388C>T | ||
| ENST00000638603.1:c.1150C>T | ENSP00000491728.1:p.Arg384Ter | |
| ENST00000638663.1:c.*52C>T | ENSP00000491407.1:n.*52C>T | |
| ENST00000638680.1:n.2851C>T | ||
| ENST00000639145.1:c.1261C>T | ENSP00000492831.1:p.Arg421Ter | |
| ENST00000639300.1:c.*557C>T | ENSP00000492840.1:n.*557C>T | |
| ENST00000639715.1:c.1225C>T | ||
| ENST00000639738.1:c.358C>T | ENSP00000491792.1:p.Arg120Ter | |
| ENST00000640341.1:c.*910C>T | ENSP00000492714.1:n.*910C>T | |
| ENST00000640634.1:c.1391C>T | ||
| ENST00000640640.1:c.1270C>T | ENSP00000492246.1:p.Arg424Ter | |
| ENST00000640880.1:c.83C>T | ||
| ENST00000640900.1:n.105C>T | ||
| ENST00000640957.1:c.1270C>T | ENSP00000492004.1:p.Arg424Ter | |
| ENST00000264896.6:c.1270C>T | ENSP00000264896.2:p.Arg424Ter | |
| ENST00000452464.6:c.841C>T | ENSP00000399154.2:p.Arg281Ter | |
| ENST00000511129.1:n.646C>T | ||
| NM_001204255.1:c.841C>T | NP_001191184.1:p.Arg281Ter | |
| NM_005506.3:c.1270C>T | NP_005497.1:p.Arg424Ter | |
| NM_005506.4:c.1270C>T MANE Select | NP_005497.1:p.Arg424Ter | |
| NM_001204255.2:c.841C>T | NP_001191184.1:p.Arg281Ter |