Linked Data
ClinVar Variation Id:
700697
ClinVar RCV Id:
RCV000868983
dbSNP Id:
rs373597800
ExAC:
16:89986248 C / T
gnomAD v2:
16-89986248-C-T
gnomAD v3:
16-89919840-C-T
gnomAD v4:
16-89919840-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919840C>T , CM000678.2:g.89919840C>T | GRCh38 |
| NC_000016.9:g.89986248C>T , CM000678.1:g.89986248C>T | GRCh37 |
| NC_000016.8:g.88513749C>T | NCBI36 |
| NG_012026.1:g.6962C>T | |
| NG_027810.1:g.2832C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.582C>T MANE Select | ENSP00000451605.1:p.Val194= | |
| ENST00000639847.1:c.582C>T | ENSP00000492011.1:p.Val194= | |
| ENST00000555147.1:c.582C>T | ENSP00000451605.1:p.Val194= | |
| ENST00000555427.1:c.582C>T | ENSP00000451760.1:p.Val194= | |
| ENST00000556922.1:c.582C>T | ENSP00000451560.1:p.Val194= | |
| NM_002386.3:c.582C>T | NP_002377.4:p.Val194= | |
| NM_002386.4:c.582C>T MANE Select | NP_002377.4:p.Val194= |