Linked Data
ClinVar Variation Id:
521349
dbSNP Id:
rs200426926
ExAC:
16:3077380 G / A
gnomAD v2:
16-3077380-G-A
gnomAD v3:
16-3027379-G-A
gnomAD v4:
16-3027379-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3027379G>A , CM000678.2:g.3027379G>A | GRCh38 |
| NC_000016.9:g.3077380G>A , CM000678.1:g.3077380G>A | GRCh37 |
| NC_000016.8:g.3017381G>A | NCBI36 |
| NG_052595.1:g.8361G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326266.13:c.824G>A MANE Select | ENSP00000326531.8:p.Gly275Asp | |
| ENST00000253952.9:c.810+99G>A | ENSP00000253952.9:n.810+99G>A | |
| ENST00000326266.12:c.824G>A | ENSP00000326531.8:p.Gly275Asp | |
| ENST00000574549.5:c.752G>A | ENSP00000458295.1:p.Gly251Asp | |
| ENST00000575576.5:c.752G>A | ENSP00000460015.1:p.Gly251Asp | |
| NM_001142350.1:c.810+99G>A | NP_001135822.1:n.810+99G>A | |
| NM_024339.3:c.824G>A | NP_077315.2:p.Gly275Asp | |
| NM_001142350.2:c.810+99G>A | NP_001135822.1:n.810+99G>A | |
| NM_001347703.1:c.752G>A | NP_001334632.1:p.Gly251Asp | |
| NM_001347704.1:c.824G>A | NP_001334633.1:p.Gly275Asp | |
| NM_024339.4:c.824G>A | NP_077315.2:p.Gly275Asp | |
| NM_024339.5:c.824G>A MANE Select | NP_077315.2:p.Gly275Asp | |
| NM_001142350.3:c.810+99G>A | NP_001135822.1:n.810+99G>A | |
| NM_001347703.2:c.752G>A | NP_001334632.1:p.Gly251Asp | |
| NM_001347704.2:c.824G>A | NP_001334633.1:p.Gly275Asp |