Linked Data
ClinVar Variation Id:
470704
dbSNP Id:
rs201489928
ExAC:
16:89985998 C / T
gnomAD v2:
16-89985998-C-T
gnomAD v3:
16-89919590-C-T
gnomAD v4:
16-89919590-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919590C>T , CM000678.2:g.89919590C>T | GRCh38 |
| NC_000016.9:g.89985998C>T , CM000678.1:g.89985998C>T | GRCh37 |
| NC_000016.8:g.88513499C>T | NCBI36 |
| NG_012026.1:g.6712C>T | |
| NG_027810.1:g.2582C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555147.2:c.332C>T MANE Select | ENSP00000451605.1:p.Ala111Val | |
| ENST00000639847.1:c.332C>T | ENSP00000492011.1:p.Ala111Val | |
| ENST00000555147.1:c.332C>T | ENSP00000451605.1:p.Ala111Val | |
| ENST00000555427.1:c.332C>T | ENSP00000451760.1:p.Ala111Val | |
| ENST00000556922.1:c.332C>T | ENSP00000451560.1:p.Ala111Val | |
| NM_002386.3:c.332C>T | NP_002377.4:p.Ala111Val | |
| NM_002386.4:c.332C>T MANE Select | NP_002377.4:p.Ala111Val |