Linked Data
ClinVar Variation Id:
2957730
ClinVar RCV Id:
RCV003811393
dbSNP Id:
rs757453037
gnomAD v2:
9-80919634-C-T
gnomAD v3:
9-78304718-C-T
gnomAD v4:
9-78304718-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78304718C>T , CM000671.2:g.78304718C>T | GRCh38 |
| NC_000009.11:g.80919634C>T , CM000671.1:g.80919634C>T | GRCh37 |
| NC_000009.10:g.80109454C>T | NCBI36 |
| NG_012165.1:g.12576C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376588.4:c.192-17C>T MANE Select | ENSP00000365773.3:n.192-17C>T | |
| ENST00000347159.6:c.192-17C>T | ENSP00000317606.2:n.192-17C>T | |
| ENST00000376588.3:c.192-17C>T | ENSP00000365773.3:n.192-17C>T | |
| NM_021154.4:c.192-17C>T | NP_066977.1:n.192-17C>T | |
| NM_058179.3:c.192-17C>T | NP_478059.1:n.192-17C>T | |
| NM_058179.4:c.192-17C>T MANE Select | NP_478059.1:n.192-17C>T | |
| NM_021154.5:c.192-17C>T | NP_066977.1:n.192-17C>T |