Linked Data
ClinVar Variation Id:
379740
dbSNP Id:
rs747779231
ExAC:
9:131088161 G / C
gnomAD v2:
9-131088161-G-C
gnomAD v4:
9-128325882-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128325882G>C , CM000671.2:g.128325882G>C | GRCh38 |
| NC_000009.11:g.131088161G>C , CM000671.1:g.131088161G>C | GRCh37 |
| NC_000009.10:g.130127982G>C | NCBI36 |
| NG_042101.1:g.8375G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300452.8:c.402+1G>C MANE Select | ENSP00000300452.3:n.402+1G>C | |
| ENST00000300452.7:c.402+1G>C | ENSP00000300452.3:n.402+1G>C | |
| ENST00000372875.3:c.403G>C | ENSP00000361966.3:p.Val135Leu | |
| NM_001305942.1:c.*2+1G>C | NP_001292871.1:n.*2+1G>C | |
| NM_016035.3:c.402+1G>C | NP_057119.2:n.402+1G>C | |
| NM_016035.4:c.402+1G>C | NP_057119.2:n.402+1G>C | |
| XM_011518761.1:c.402+1G>C | XP_011517063.1:n.402+1G>C | |
| XR_929805.1:n.748+1G>C | ||
| XM_017014792.1:c.*2+1G>C | XP_016870281.1:n.*2+1G>C | |
| XM_017014793.1:c.*2+1G>C | XP_016870282.1:n.*2+1G>C | |
| XR_001746316.2:n.655+1G>C | ||
| XR_929805.3:n.748+1G>C | ||
| NM_016035.5:c.402+1G>C MANE Select | NP_057119.3:n.402+1G>C | |
| NM_001305942.2:c.*2+1G>C | NP_001292871.2:n.*2+1G>C |