Linked Data
ClinVar Variation Id:
2080567
ClinVar RCV Id:
RCV002983138
dbSNP Id:
rs201407808
ExAC:
18:47108803 G / A
gnomAD v2:
18-47108803-G-A
gnomAD v3:
18-49582433-G-A
gnomAD v4:
18-49582433-G-A
COSMIC:
COSM3783151
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49582433G>A , CM000680.2:g.49582433G>A | GRCh38 |
| NC_000018.9:g.47108803G>A , CM000680.1:g.47108803G>A | GRCh37 |
| NC_000018.8:g.45362801G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261292.9:c.1108G>A MANE Select | ENSP00000261292.4:p.Val370Ile | |
| ENST00000261292.8:c.1108G>A | ENSP00000261292.4:p.Val370Ile | |
| ENST00000427224.6:c.886G>A | ENSP00000387978.2:p.Val296Ile | |
| NM_001308006.1:c.886G>A | NP_001294935.1:p.Val296Ile | |
| NM_006033.2:c.1108G>A | NP_006024.1:p.Val370Ile | |
| NM_006033.3:c.1108G>A | NP_006024.1:p.Val370Ile | |
| XM_005258390.1:c.1216G>A | XP_005258447.1:p.Val406Ile | |
| XM_011526265.1:c.994G>A | XP_011524567.1:p.Val332Ile | |
| XM_011526267.1:c.868G>A | XP_011524569.1:p.Val290Ile | |
| XM_011526265.3:c.994G>A | XP_011524567.1:p.Val332Ile | |
| XM_017026095.1:c.517G>A | XP_016881584.1:p.Val173Ile | |
| NM_006033.4:c.1108G>A MANE Select | NP_006024.1:p.Val370Ile | |
| NM_001308006.2:c.886G>A | NP_001294935.1:p.Val296Ile |