Linked Data
ClinVar Variation Id:
1018064
ClinVar RCV Id:
RCV001317310
dbSNP Id:
rs963483105
gnomAD v2:
1-983532-G-A
gnomAD v3:
1-1048152-G-A
gnomAD v4:
1-1048152-G-A
COSMIC:
COSM5471154
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1048152G>A , CM000663.2:g.1048152G>A | GRCh38 |
| NC_000001.10:g.983532G>A , CM000663.1:g.983532G>A | GRCh37 |
| NC_000001.9:g.973395G>A | NCBI36 |
| NG_016346.1:g.33030G>A , LRG_198:g.33030G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.3892G>A MANE Select | ENSP00000368678.2:p.Val1298Ile | |
| ENST00000651234.1:c.3577G>A | ENSP00000499046.1:p.Val1193Ile | |
| ENST00000652369.1:c.3577G>A | ENSP00000498543.1:p.Val1193Ile | |
| ENST00000379370.6:c.3892G>A | ENSP00000368678.2:p.Val1298Ile | |
| ENST00000620552.4:c.3478G>A | ENSP00000484607.1:p.Val1160Ile | |
| NM_001305275.1:c.3892G>A | NP_001292204.1:p.Val1298Ile | |
| NM_198576.3:c.3892G>A | NP_940978.2:p.Val1298Ile | |
| XM_005244749.2:c.3892G>A | XP_005244806.1:p.Val1298Ile | |
| XM_006710635.2:c.3892G>A | XP_006710698.1:p.Val1298Ile | |
| XM_011541429.1:c.3892G>A | XP_011539731.1:p.Val1298Ile | |
| XM_011541430.1:c.3019G>A | XP_011539732.1:p.Val1007Ile | |
| XM_011541431.1:c.2158G>A | XP_011539733.1:p.Val720Ile | |
| XR_946650.1:n.3959G>A | ||
| NM_001364727.1:c.3577G>A | NP_001351656.1:p.Val1193Ile | |
| XM_005244749.3:c.3892G>A | XP_005244806.1:p.Val1298Ile | |
| XM_011541429.2:c.3892G>A | XP_011539731.1:p.Val1298Ile | |
| XR_946650.2:n.3963G>A | ||
| NM_001305275.2:c.3892G>A | NP_001292204.1:p.Val1298Ile | |
| NM_198576.4:c.3892G>A MANE Select | NP_940978.2:p.Val1298Ile | |
| NM_001364727.2:c.3577G>A | NP_001351656.1:p.Val1193Ile |