Linked Data
ClinVar Variation Id:
321420
ClinVar RCV Id:
RCV000333479
dbSNP Id:
rs373344683
ExAC:
16:89985855 C / T
gnomAD v2:
16-89985855-C-T
gnomAD v3:
16-89919447-C-T
gnomAD v4:
16-89919447-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919447C>T , CM000678.2:g.89919447C>T | GRCh38 |
| NC_000016.9:g.89985855C>T , CM000678.1:g.89985855C>T | GRCh37 |
| NC_000016.8:g.88513356C>T | NCBI36 |
| NG_012026.1:g.6569C>T | |
| NG_027810.1:g.2439C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.189C>T MANE Select | ENSP00000451605.1:p.Ile63= | |
| ENST00000639847.1:c.189C>T | ENSP00000492011.1:p.Ile63= | |
| ENST00000555147.1:c.189C>T | ENSP00000451605.1:p.Ile63= | |
| ENST00000555427.1:c.189C>T | ENSP00000451760.1:p.Ile63= | |
| ENST00000556922.1:c.189C>T | ENSP00000451560.1:p.Ile63= | |
| NM_002386.3:c.189C>T | NP_002377.4:p.Ile63= | |
| NM_002386.4:c.189C>T MANE Select | NP_002377.4:p.Ile63= |