Linked Data
dbSNP Id:
rs371314603
ExAC:
16:51172856 C / T
gnomAD v2:
16-51172856-C-T
gnomAD v3:
16-51138945-C-T
gnomAD v4:
16-51138945-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.51138945C>T , CM000678.2:g.51138945C>T | GRCh38 |
| NC_000016.9:g.51172856C>T , CM000678.1:g.51172856C>T | GRCh37 |
| NC_000016.8:g.49730357C>T | NCBI36 |
| NG_007990.1:g.17328G>A , LRG_674:g.17328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440970.6:c.3277G>A | ENSP00000407914.2:p.Val1093Met | |
| ENST00000570206.2:c.2986G>A | ENSP00000456777.2:p.Val996Met | |
| ENST00000685868.1:c.3277G>A | ENSP00000509873.1:p.Val1093Met | |
| ENST00000690502.1:c.3277G>A | ENSP00000510560.1:p.Val1093Met | |
| ENST00000251020.9:c.3277G>A MANE Select | ENSP00000251020.4:p.Val1093Met | |
| ENST00000251020.8:c.3277G>A | ENSP00000251020.4:p.Val1093Met | |
| ENST00000440970.5:c.2986G>A | ENSP00000407914.1:p.Val996Met | |
| ENST00000566102.1:c.77-1393G>A | ENSP00000455582.1:n.77-1393G>A | |
| ENST00000570206.1:c.2986G>A | ENSP00000456777.1:p.Val996Met | |
| NM_001127892.1:c.2986G>A | NP_001121364.1:p.Val996Met | |
| NM_002968.2:c.3277G>A , LRG_674t1:c.3277G>A | NP_002959.2:p.Val1093Met | |
| XM_006721241.2:c.3277G>A | XP_006721304.1:p.Val1093Met | |
| XM_011523254.1:c.3277G>A | XP_011521556.1:p.Val1093Met | |
| XM_011523255.1:c.3277G>A | XP_011521557.1:p.Val1093Met | |
| NM_002968.3:c.3277G>A MANE Select | NP_002959.2:p.Val1093Met | |
| NM_001127892.2:c.2986G>A | NP_001121364.1:p.Val996Met |