Linked Data
ClinVar Variation Id:
436786
dbSNP Id:
rs765742613
ExAC:
16:3656527 C / T
gnomAD v2:
16-3656527-C-T
gnomAD v3:
16-3606526-C-T
gnomAD v4:
16-3606526-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3606526C>T , CM000678.2:g.3606526C>T | GRCh38 |
| NC_000016.9:g.3656527C>T , CM000678.1:g.3656527C>T | GRCh37 |
| NC_000016.8:g.3596528C>T | NCBI36 |
| NG_028123.1:g.10059G>A , LRG_503:g.10059G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697858.1:n.49G>A | ||
| ENST00000294008.4:c.708G>A MANE Select | ENSP00000294008.3:p.Ala236= | |
| ENST00000294008.3:c.708G>A | ENSP00000294008.3:p.Ala236= | |
| ENST00000466154.5:n.1003G>A | ||
| ENST00000486524.1:n.1336G>A | ||
| NM_032444.2:c.708G>A , LRG_503t1:c.708G>A | NP_115820.2:p.Ala236= | |
| XM_011522715.1:c.708G>A | XP_011521017.1:p.Ala236= | |
| NM_032444.3:c.708G>A | NP_115820.2:p.Ala236= | |
| XM_011522715.3:c.708G>A | XP_011521017.1:p.Ala236= | |
| XM_024450471.1:c.708G>A | XP_024306239.1:p.Ala236= | |
| NM_032444.4:c.708G>A MANE Select | NP_115820.2:p.Ala236= |