Linked Data
ClinVar Variation Id:
884725
ClinVar RCV Id:
RCV001115921
dbSNP Id:
rs375789795
ExAC:
16:89985654 C / T
gnomAD v2:
16-89985654-C-T
gnomAD v3:
16-89919246-C-T
gnomAD v4:
16-89919246-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919246C>T , CM000678.2:g.89919246C>T | GRCh38 |
| NC_000016.9:g.89985654C>T , CM000678.1:g.89985654C>T | GRCh37 |
| NC_000016.8:g.88513155C>T | NCBI36 |
| NG_012026.1:g.6368C>T | |
| NG_027810.1:g.2238C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.-13C>T MANE Select | ENSP00000451605.1:n.-13C>T | |
| ENST00000639847.1:c.-13C>T | ENSP00000492011.1:n.-13C>T | |
| ENST00000555147.1:c.-13C>T | ENSP00000451605.1:n.-13C>T | |
| ENST00000555427.1:c.-13C>T | ENSP00000451760.1:n.-13C>T | |
| ENST00000556922.1:c.-13C>T | ENSP00000451560.1:n.-13C>T | |
| NM_002386.3:c.-13C>T | NP_002377.4:n.-13C>T | |
| NM_002386.4:c.-13C>T MANE Select | NP_002377.4:n.-13C>T |