Linked Data
ClinVar Variation Id:
241494
dbSNP Id:
rs368442389
ExAC:
1:193205402 G / A
gnomAD v2:
1-193205402-G-A
gnomAD v3:
1-193236272-G-A
gnomAD v4:
1-193236272-G-A
COSMIC:
COSM901401
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193236272G>A , CM000663.2:g.193236272G>A | GRCh38 |
| NC_000001.10:g.193205402G>A , CM000663.1:g.193205402G>A | GRCh37 |
| NC_000001.9:g.191472025G>A | NCBI36 |
| NG_012691.1:g.119315G>A , LRG_507:g.119315G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1333G>A MANE Select | ENSP00000356405.4:p.Val445Ile | |
| ENST00000635846.1:c.1090G>A | ENSP00000490035.1:p.Val364Ile | |
| ENST00000643006.1:c.*243G>A | ENSP00000496633.1:n.*243G>A | |
| ENST00000648071.1:c.*1309G>A | ENSP00000497513.1:n.*1309G>A | |
| ENST00000649613.1:n.583G>A | ||
| ENST00000649895.1:n.1551G>A | ||
| ENST00000650197.1:c.1333G>A | ENSP00000496929.1:p.Val445Ile | |
| ENST00000367435.3:c.1333G>A | ENSP00000356405.3:p.Val445Ile | |
| ENST00000477868.1:n.129+3118G>A | ||
| NM_024529.4:c.1333G>A , LRG_507t1:c.1333G>A | NP_078805.3:p.Val445Ile | |
| NM_024529.5:c.1333G>A MANE Select | NP_078805.3:p.Val445Ile |