Linked Data
ClinVar Variation Id:
2210594
dbSNP Id:
rs587778212
gnomAD v2:
16-3860615-C-T
gnomAD v3:
16-3810614-C-T
gnomAD v4:
16-3810614-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3810614C>T , CM000678.2:g.3810614C>T | GRCh38 |
| NC_000016.9:g.3860615C>T , CM000678.1:g.3860615C>T | GRCh37 |
| NC_000016.8:g.3800616C>T | NCBI36 |
| NG_009873.1:g.74507G>A | |
| NG_009873.2:g.75100G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.964G>A MANE Select | ENSP00000262367.5:p.Val322Met | |
| ENST00000262367.9:c.964G>A | ENSP00000262367.5:p.Val322Met | |
| ENST00000382070.7:c.964G>A | ENSP00000371502.3:p.Val322Met | |
| NM_001079846.1:c.964G>A | NP_001073315.1:p.Val322Met | |
| NM_004380.2:c.964G>A | NP_004371.2:p.Val322Met | |
| XM_005255124.3:c.964G>A | XP_005255181.1:p.Val322Met | |
| XM_005255125.3:c.964G>A | XP_005255182.1:p.Val322Met | |
| XM_006720848.2:c.964G>A | XP_006720911.1:p.Val322Met | |
| XM_011522380.1:c.910G>A | XP_011520682.1:p.Val304Met | |
| XM_011522381.1:c.211G>A | XP_011520683.1:p.Val71Met | |
| XM_011522382.1:c.964G>A | XP_011520684.1:p.Val322Met | |
| XM_005255124.4:c.964G>A | XP_005255181.1:p.Val322Met | |
| XM_005255125.4:c.964G>A | XP_005255182.1:p.Val322Met | |
| XM_006720848.3:c.964G>A | XP_006720911.1:p.Val322Met | |
| XM_011522381.2:c.211G>A | XP_011520683.1:p.Val71Met | |
| XM_011522382.3:c.964G>A | XP_011520684.1:p.Val322Met | |
| XM_017022944.1:c.964G>A | XP_016878433.1:p.Val322Met | |
| NM_004380.3:c.964G>A MANE Select | NP_004371.2:p.Val322Met |