Linked Data
ClinVar Variation Id:
224812
ClinVar RCV Id:
RCV000210385
dbSNP Id:
rs869312863
gnomAD v2:
1-162492294-C-T
gnomAD v4:
1-162522504-C-T
COSMIC:
COSM300557
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162522504C>T , CM000663.2:g.162522504C>T | GRCh38 |
| NC_000001.10:g.162492294C>T , CM000663.1:g.162492294C>T | GRCh37 |
| NC_000001.9:g.160758918C>T | NCBI36 |
| NG_050728.1:g.30331C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489294.2:c.1214C>T MANE Select | ENSP00000420270.1:p.Pro405Leu | |
| ENST00000282169.8:n.1795C>T | ||
| ENST00000489294.1:c.1214C>T | ENSP00000420270.1:p.Pro405Leu | |
| ENST00000538489.5:c.*90C>T | ENSP00000446416.1:n.*90C>T | |
| ENST00000545294.5:c.992C>T | ENSP00000441226.1:p.Pro331Leu | |
| NM_001184763.1:c.992C>T | NP_001171692.1:p.Pro331Leu | |
| NM_144624.2:c.*90C>T | NP_653225.2:n.*90C>T | |
| NM_175866.4:c.1214C>T | NP_787062.1:p.Pro405Leu | |
| XR_921745.1:n.1297C>T | ||
| NM_175866.5:c.1214C>T MANE Select | NP_787062.1:p.Pro405Leu |