Linked Data
ClinVar Variation Id:
2633792
ClinVar RCV Id:
RCV003400262
dbSNP Id:
rs1171322866
gnomAD v2:
16-222908-C-T
gnomAD v4:
16-172909-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172909C>T , CM000678.2:g.172909C>T | GRCh38 |
| NC_000016.9:g.222908C>T , CM000678.1:g.222908C>T | GRCh37 |
| NC_000016.8:g.162908C>T | NCBI36 |
| NG_000006.1:g.33772C>T | |
| NG_059186.1:g.1259C>T | |
| NG_059271.1:g.5063C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.-4C>T MANE Select | ENSP00000251595.6:n.-4C>T | |
| ENST00000251595.10:c.-4C>T | ENSP00000251595.6:n.-4C>T | |
| ENST00000397806.1:c.-51C>T | ENSP00000380908.1:n.-51C>T | |
| ENST00000482565.1:n.16C>T | ||
| NM_000517.4:c.-4C>T | NP_000508.1:n.-4C>T | |
| NM_000517.6:c.-4C>T MANE Select | NP_000508.1:n.-4C>T |