Linked Data
ClinVar Variation Id:
321407
ClinVar RCV Id:
RCV000348335
dbSNP Id:
rs540650422
gnomAD v2:
16-89985329-C-T
gnomAD v3:
16-89918921-C-T
gnomAD v4:
16-89918921-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89918921C>T , CM000678.2:g.89918921C>T | GRCh38 |
| NC_000016.9:g.89985329C>T , CM000678.1:g.89985329C>T | GRCh37 |
| NC_000016.8:g.88512830C>T | NCBI36 |
| NG_012026.1:g.6043C>T | |
| NG_027810.1:g.1913C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.-338C>T MANE Select | ENSP00000451605.1:n.-338C>T | |
| ENST00000639847.1:c.-338C>T | ENSP00000492011.1:n.-338C>T | |
| ENST00000555147.1:c.-338C>T | ENSP00000451605.1:n.-338C>T | |
| ENST00000555427.1:c.-338C>T | ENSP00000451760.1:n.-338C>T | |
| NM_002386.3:c.-338C>T | NP_002377.4:n.-338C>T | |
| NM_002386.4:c.-338C>T MANE Select | NP_002377.4:n.-338C>T |