Linked Data
ClinVar Variation Id:
506777
ClinVar RCV Id:
RCV000612686
dbSNP Id:
rs770722317
ExAC:
9:131085121 C / T
gnomAD v2:
9-131085121-C-T
gnomAD v3:
9-128322842-C-T
gnomAD v4:
9-128322842-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128322842C>T , CM000671.2:g.128322842C>T | GRCh38 |
| NC_000009.11:g.131085121C>T , CM000671.1:g.131085121C>T | GRCh37 |
| NC_000009.10:g.130124942C>T | NCBI36 |
| NG_042101.1:g.5335C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300452.8:c.-17C>T MANE Select | ENSP00000300452.3:n.-17C>T | |
| ENST00000300452.7:c.-17C>T | ENSP00000300452.3:n.-17C>T | |
| ENST00000608951.5:c.-17C>T | ENSP00000476323.1:n.-17C>T | |
| ENST00000609948.1:c.-17C>T | ENSP00000477292.1:n.-17C>T | |
| NM_001305942.1:c.-17C>T | NP_001292871.1:n.-17C>T | |
| NM_016035.3:c.-17C>T | NP_057119.2:n.-17C>T | |
| NM_016035.4:c.-17C>T | NP_057119.2:n.-17C>T | |
| XM_011518761.1:c.-17C>T | XP_011517063.1:n.-17C>T | |
| XR_929805.1:n.330C>T | ||
| XM_017014792.1:c.-17C>T | XP_016870281.1:n.-17C>T | |
| XM_017014793.1:c.-17C>T | XP_016870282.1:n.-17C>T | |
| XR_001746316.2:n.334C>T | ||
| XR_929805.3:n.330C>T | ||
| NM_016035.5:c.-17C>T MANE Select | NP_057119.3:n.-17C>T | |
| NM_001305942.2:c.-17C>T | NP_001292871.2:n.-17C>T |