Linked Data
ClinVar Variation Id:
2053672
ClinVar RCV Id:
RCV002919131
MyVariant Identifiers:
chr16:g.87936076A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87902470A>T , CM000678.2:g.87902470A>T | GRCh38 |
| NC_000016.9:g.87936076A>T , CM000678.1:g.87936076A>T | GRCh37 |
| NC_000016.8:g.86493577A>T | NCBI36 |
| NG_033227.1:g.39037T>A | |
| NG_033227.2:g.39060T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648022.1:c.510T>A | ENSP00000497934.1:p.Ala170= | |
| ENST00000648177.1:c.391T>A | ENSP00000497626.1:p.Cys131Ser | |
| ENST00000649158.1:c.510T>A | ENSP00000496993.1:p.Ala170= | |
| ENST00000649794.3:c.510T>A MANE Select | ENSP00000498065.2:p.Ala170= | |
| ENST00000309893.3:c.510T>A | ENSP00000309649.2:p.Ala170= | |
| NM_001739.1:c.510T>A | NP_001730.1:p.Ala170= | |
| XM_011523309.1:c.510T>A | XP_011521611.1:p.Ala170= | |
| XM_011523310.1:c.510T>A | XP_011521612.1:p.Ala170= | |
| XR_933417.1:n.629T>A | ||
| NM_001739.2:c.510T>A MANE Select | NP_001730.1:p.Ala170= | |
| XM_011523309.2:c.510T>A | XP_011521611.1:p.Ala170= | |
| XM_017023646.1:c.510T>A | XP_016879135.1:p.Ala170= | |
| XM_024450434.1:c.132T>A | XP_024306202.1:p.Ala44= | |
| XR_002957839.1:n.635T>A | ||
| NM_001367225.1:c.510T>A | NP_001354154.1:p.Ala170= | |
| NR_159798.1:n.589T>A | ||
| NR_159799.1:n.470T>A |