Linked Data
ClinVar Variation Id:
12219
ClinVar RCV Id:
RCV000013003
dbSNP Id:
rs121964892
COSMIC:
COSM5589771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3084655G>A , CM000682.2:g.3084655G>A | GRCh38 |
| NC_000020.10:g.3065301G>A , CM000682.1:g.3065301G>A | GRCh37 |
| NC_000020.9:g.3013301G>A | NCBI36 |
| NG_008663.1:g.5070C>T , LRG_715:g.5070C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380293.3:c.20C>T MANE Select | ENSP00000369647.3:p.Pro7Leu | |
| NM_000490.4:c.20C>T , LRG_715t1:c.20C>T | NP_000481.2:p.Pro7Leu | |
| XM_011529267.1:c.20C>T | XP_011527569.1:p.Pro7Leu | |
| XM_011529267.2:c.20C>T | XP_011527569.1:p.Pro7Leu | |
| NM_000490.5:c.20C>T MANE Select | NP_000481.2:p.Pro7Leu |