Linked Data
ClinVar Variation Id:
17880
dbSNP Id:
rs121918399
ExAC:
19:45411100 C / T
gnomAD v2:
19-45411100-C-T
gnomAD v4:
19-44907843-C-T
COSMIC:
COSM5505582
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44907843C>T , CM000681.2:g.44907843C>T | GRCh38 |
| NC_000019.9:g.45411100C>T , CM000681.1:g.45411100C>T | GRCh37 |
| NC_000019.8:g.50102940C>T | NCBI36 |
| NG_007084.2:g.7062C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252486.9:c.127C>T MANE Select | ENSP00000252486.3:p.Arg43Cys | |
| ENST00000252486.8:c.127C>T | ENSP00000252486.3:p.Arg43Cys | |
| ENST00000425718.1:c.127C>T | ENSP00000410423.1:p.Arg43Cys | |
| ENST00000434152.5:c.205C>T | ENSP00000413653.2:p.Arg69Cys | |
| ENST00000446996.5:c.127C>T | ENSP00000413135.1:p.Arg43Cys | |
| NM_000041.3:c.127C>T | NP_000032.1:p.Arg43Cys | |
| NM_001302688.1:c.205C>T | NP_001289617.1:p.Arg69Cys | |
| NM_001302689.1:c.127C>T | NP_001289618.1:p.Arg43Cys | |
| NM_001302690.1:c.127C>T | NP_001289619.1:p.Arg43Cys | |
| NM_001302691.1:c.127C>T | NP_001289620.1:p.Arg43Cys | |
| NM_000041.4:c.127C>T MANE Select | NP_000032.1:p.Arg43Cys | |
| NM_001302688.2:c.205C>T | NP_001289617.1:p.Arg69Cys | |
| NM_001302689.2:c.127C>T | NP_001289618.1:p.Arg43Cys | |
| NM_001302691.2:c.127C>T | NP_001289620.1:p.Arg43Cys | |
| NM_001302690.2:c.127C>T | NP_001289619.1:p.Arg43Cys |