Linked Data
ClinVar Variation Id:
321414
ClinVar RCV Id:
RCV000397311
dbSNP Id:
rs886052502
gnomAD v4:
16-89919158-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919158G>T , CM000678.2:g.89919158G>T | GRCh38 |
| NC_000016.9:g.89985566G>T , CM000678.1:g.89985566G>T | GRCh37 |
| NC_000016.8:g.88513067G>T | NCBI36 |
| NG_012026.1:g.6280G>T | |
| NG_027810.1:g.2150G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.-101G>T MANE Select | ENSP00000451605.1:n.-101G>T | |
| ENST00000639847.1:c.-101G>T | ENSP00000492011.1:n.-101G>T | |
| ENST00000555147.1:c.-101G>T | ENSP00000451605.1:n.-101G>T | |
| ENST00000555427.1:c.-101G>T | ENSP00000451760.1:n.-101G>T | |
| NM_002386.3:c.-101G>T | NP_002377.4:n.-101G>T | |
| NM_002386.4:c.-101G>T MANE Select | NP_002377.4:n.-101G>T |