Linked Data
ClinVar Variation Id:
1359545
ClinVar RCV Id:
RCV001904440
dbSNP Id:
rs747982009
ExAC:
1:979220 G / A
gnomAD v2:
1-979220-G-A
gnomAD v4:
1-1043840-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1043840G>A , CM000663.2:g.1043840G>A | GRCh38 |
| NC_000001.10:g.979220G>A , CM000663.1:g.979220G>A | GRCh37 |
| NC_000001.9:g.969083G>A | NCBI36 |
| NG_016346.1:g.28718G>A , LRG_198:g.28718G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.1816G>A MANE Select | ENSP00000368678.2:p.Val606Met | |
| ENST00000651234.1:c.1501G>A | ENSP00000499046.1:p.Val501Met | |
| ENST00000652369.1:c.1501G>A | ENSP00000498543.1:p.Val501Met | |
| ENST00000379370.6:c.1816G>A | ENSP00000368678.2:p.Val606Met | |
| ENST00000620552.4:c.1402G>A | ENSP00000484607.1:p.Val468Met | |
| NM_001305275.1:c.1816G>A | NP_001292204.1:p.Val606Met | |
| NM_198576.3:c.1816G>A | NP_940978.2:p.Val606Met | |
| XM_005244749.2:c.1816G>A | XP_005244806.1:p.Val606Met | |
| XM_006710635.2:c.1816G>A | XP_006710698.1:p.Val606Met | |
| XM_011541429.1:c.1816G>A | XP_011539731.1:p.Val606Met | |
| XM_011541430.1:c.943G>A | XP_011539732.1:p.Val315Met | |
| XM_011541431.1:c.82G>A | XP_011539733.1:p.Val28Met | |
| XR_946650.1:n.1883G>A | ||
| NM_001364727.1:c.1501G>A | NP_001351656.1:p.Val501Met | |
| XM_005244749.3:c.1816G>A | XP_005244806.1:p.Val606Met | |
| XM_011541429.2:c.1816G>A | XP_011539731.1:p.Val606Met | |
| XR_946650.2:n.1887G>A | ||
| NM_001305275.2:c.1816G>A | NP_001292204.1:p.Val606Met | |
| NM_198576.4:c.1816G>A MANE Select | NP_940978.2:p.Val606Met | |
| NM_001364727.2:c.1501G>A | NP_001351656.1:p.Val501Met |