Linked Data
ClinVar Variation Id:
2970352
dbSNP Id:
rs1568141724
gnomAD v3:
18-12356714-C-T
gnomAD v4:
18-12356714-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12356714C>T , CM000680.2:g.12356714C>T | GRCh38 |
| NC_000018.9:g.12356713C>T , CM000680.1:g.12356713C>T | GRCh37 |
| NC_000018.8:g.12346713C>T | NCBI36 |
| NG_023361.1:g.25563G>A , LRG_666:g.25563G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*740G>A | ENSP00000508998.1:n.*740G>A | |
| ENST00000688199.1:c.1026+1956G>A | ENSP00000510237.1:n.1026+1956G>A | |
| ENST00000691179.1:c.1069G>A | ENSP00000509010.1:p.Val357Ile | |
| ENST00000691970.1:c.*521G>A | ENSP00000508440.1:n.*521G>A | |
| ENST00000692497.1:c.1144G>A | ENSP00000509870.1:p.Val382Ile | |
| ENST00000692988.1:n.962G>A | ||
| ENST00000269143.8:c.1144G>A MANE Select | ENSP00000269143.2:p.Val382Ile | |
| ENST00000269143.7:c.1144G>A | ENSP00000269143.2:p.Val382Ile | |
| NM_006796.2:c.1144G>A , LRG_666t1:c.1144G>A | NP_006787.2:p.Val382Ile | |
| XM_011525601.1:c.1144G>A | XP_011523903.1:p.Val382Ile | |
| XM_011525601.3:c.1144G>A | XP_011523903.1:p.Val382Ile | |
| NM_006796.3:c.1144G>A MANE Select | NP_006787.2:p.Val382Ile |