Linked Data
ClinVar Variation Id:
3074244
ClinVar RCV Id:
RCV004012786
dbSNP Id:
rs926424189
gnomAD v3:
16-15750170-C-T
gnomAD v4:
16-15750170-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15750170C>T , CM000678.2:g.15750170C>T | GRCh38 |
| NC_000016.9:g.15844027C>T , CM000678.1:g.15844027C>T | GRCh37 |
| NC_000016.8:g.15751528C>T | NCBI36 |
| NG_009299.1:g.111861G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300036.6:c.2026G>A MANE Select | ENSP00000300036.5:p.Val676Met | |
| ENST00000452625.7:c.2047G>A MANE Plus Clinical | ENSP00000407821.2:p.Val683Met | |
| ENST00000576790.7:c.2026G>A | ENSP00000458731.1:p.Val676Met | |
| ENST00000652121.1:c.*209G>A | ENSP00000498314.1:n.*209G>A | |
| ENST00000300036.5:c.2026G>A | ENSP00000300036.5:p.Val676Met | |
| ENST00000396324.7:c.2047G>A | ENSP00000379616.3:p.Val683Met | |
| ENST00000452625.6:c.2047G>A | ENSP00000407821.2:p.Val683Met | |
| ENST00000570785.1:n.2448G>A | ||
| ENST00000576790.6:c.2026G>A | ENSP00000458731.1:p.Val676Met | |
| ENST00000616439.4:c.2047G>A | ENSP00000484924.1:p.Val683Met | |
| NM_001040113.1:c.2047G>A | NP_001035202.1:p.Val683Met | |
| NM_001040114.1:c.2047G>A | NP_001035203.1:p.Val683Met | |
| NM_002474.2:c.2026G>A | NP_002465.1:p.Val676Met | |
| NM_022844.2:c.2026G>A | NP_074035.1:p.Val676Met | |
| XM_011522502.1:c.2026G>A | XP_011520804.1:p.Val676Met | |
| XM_011522502.2:c.2026G>A | XP_011520804.1:p.Val676Met | |
| XM_017023250.1:c.2047G>A | XP_016878739.1:p.Val683Met | |
| NM_002474.3:c.2026G>A MANE Select | NP_002465.1:p.Val676Met | |
| NM_001040113.2:c.2047G>A MANE Plus Clinical | NP_001035202.1:p.Val683Met | |
| NM_001040114.2:c.2047G>A | NP_001035203.1:p.Val683Met | |
| NM_022844.3:c.2026G>A | NP_074035.1:p.Val676Met |