Linked Data
dbSNP Id:
rs2051860306
gnomAD v3:
16-3729773-C-T
gnomAD v4:
16-3729773-C-T
MyVariant Identifiers:
chr16:g.3779774C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729773C>T , CM000678.2:g.3729773C>T | GRCh38 |
| NC_000016.9:g.3779774C>T , CM000678.1:g.3779774C>T | GRCh37 |
| NC_000016.8:g.3719775C>T | NCBI36 |
| NG_009873.1:g.155348G>A | |
| NG_009873.2:g.155941G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5274G>A MANE Select | ENSP00000262367.5:p.Glu1758= | |
| ENST00000262367.9:c.5274G>A | ENSP00000262367.5:p.Glu1758= | |
| ENST00000382070.7:c.5160G>A | ENSP00000371502.3:p.Glu1720= | |
| NM_001079846.1:c.5160G>A | NP_001073315.1:p.Glu1720= | |
| NM_004380.2:c.5274G>A | NP_004371.2:p.Glu1758= | |
| XM_005255124.3:c.5229G>A | XP_005255181.1:p.Glu1743= | |
| XM_005255125.3:c.4857G>A | XP_005255182.1:p.Glu1619= | |
| XM_006720848.2:c.5013G>A | XP_006720911.1:p.Glu1671= | |
| XM_011522380.1:c.5220G>A | XP_011520682.1:p.Glu1740= | |
| XM_011522381.1:c.4521G>A | XP_011520683.1:p.Glu1507= | |
| XM_005255124.4:c.5229G>A | XP_005255181.1:p.Glu1743= | |
| XM_005255125.4:c.4857G>A | XP_005255182.1:p.Glu1619= | |
| XM_006720848.3:c.5013G>A | XP_006720911.1:p.Glu1671= | |
| XM_011522381.2:c.4521G>A | XP_011520683.1:p.Glu1507= | |
| XM_017022944.1:c.5268G>A | XP_016878433.1:p.Glu1756= | |
| NM_004380.3:c.5274G>A MANE Select | NP_004371.2:p.Glu1758= |