Linked Data
ClinVar Variation Id:
1707599
ClinVar RCV Id:
RCV002286556
dbSNP Id:
rs373607295
ExAC:
16:3778038 G / A
gnomAD v2:
16-3778038-G-A
gnomAD v3:
16-3728037-G-A
gnomAD v4:
16-3728037-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728037G>A , CM000678.2:g.3728037G>A | GRCh38 |
| NC_000016.9:g.3778038G>A , CM000678.1:g.3778038G>A | GRCh37 |
| NC_000016.8:g.3718039G>A | NCBI36 |
| NG_009873.1:g.157084C>T | |
| NG_009873.2:g.157677C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7010C>T MANE Select | ENSP00000262367.5:p.Thr2337Met | |
| ENST00000262367.9:c.7010C>T | ENSP00000262367.5:p.Thr2337Met | |
| ENST00000382070.7:c.6896C>T | ENSP00000371502.3:p.Thr2299Met | |
| NM_001079846.1:c.6896C>T | NP_001073315.1:p.Thr2299Met | |
| NM_004380.2:c.7010C>T | NP_004371.2:p.Thr2337Met | |
| XM_005255124.3:c.6965C>T | XP_005255181.1:p.Thr2322Met | |
| XM_005255125.3:c.6593C>T | XP_005255182.1:p.Thr2198Met | |
| XM_006720848.2:c.6749C>T | XP_006720911.1:p.Thr2250Met | |
| XM_011522380.1:c.6956C>T | XP_011520682.1:p.Thr2319Met | |
| XM_011522381.1:c.6257C>T | XP_011520683.1:p.Thr2086Met | |
| XM_005255124.4:c.6965C>T | XP_005255181.1:p.Thr2322Met | |
| XM_005255125.4:c.6593C>T | XP_005255182.1:p.Thr2198Met | |
| XM_006720848.3:c.6749C>T | XP_006720911.1:p.Thr2250Met | |
| XM_011522381.2:c.6257C>T | XP_011520683.1:p.Thr2086Met | |
| XM_017022944.1:c.7004C>T | XP_016878433.1:p.Thr2335Met | |
| NM_004380.3:c.7010C>T MANE Select | NP_004371.2:p.Thr2337Met |