Linked Data
ClinVar Variation Id:
1363542
ClinVar RCV Id:
RCV001934944
dbSNP Id:
rs1289916547
gnomAD v2:
1-7995151-C-T
gnomAD v3:
1-7935091-C-T
gnomAD v4:
1-7935091-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7935091C>T , CM000663.2:g.7935091C>T | GRCh38 |
| NC_000001.10:g.7995151C>T , CM000663.1:g.7995151C>T | GRCh37 |
| NC_000001.9:g.7917738C>T | NCBI36 |
| NG_052834.1:g.13075G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377507.8:c.466G>A MANE Select | ENSP00000366729.3:p.Val156Met | |
| ENST00000377507.7:c.466G>A | ENSP00000366729.3:p.Val156Met | |
| ENST00000474475.1:c.10G>A | ENSP00000465272.1:p.Val4Met | |
| ENST00000492571.1:c.336G>A | ENSP00000464978.1:n.336G>A | |
| ENST00000615230.4:c.466G>A | ENSP00000478699.1:p.Val156Met | |
| NM_001561.5:c.466G>A | NP_001552.2:p.Val156Met | |
| XM_006710618.2:c.466G>A | XP_006710681.1:p.Val156Met | |
| XM_011541386.1:c.466G>A | XP_011539688.1:p.Val156Met | |
| XM_006710618.3:c.466G>A | XP_006710681.1:p.Val156Met | |
| XM_011541386.2:c.466G>A | XP_011539688.1:p.Val156Met | |
| NM_001561.6:c.466G>A MANE Select | NP_001552.2:p.Val156Met |