Linked Data
dbSNP Id:
rs747779231
gnomAD v2:
9-131088161-G-T
gnomAD v3:
9-128325882-G-T
gnomAD v4:
9-128325882-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128325882G>T , CM000671.2:g.128325882G>T | GRCh38 |
| NC_000009.11:g.131088161G>T , CM000671.1:g.131088161G>T | GRCh37 |
| NC_000009.10:g.130127982G>T | NCBI36 |
| NG_042101.1:g.8375G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300452.8:c.402+1G>T MANE Select | ENSP00000300452.3:n.402+1G>T | |
| ENST00000300452.7:c.402+1G>T | ENSP00000300452.3:n.402+1G>T | |
| ENST00000372875.3:c.403G>T | ENSP00000361966.3:p.Val135Leu | |
| NM_001305942.1:c.*2+1G>T | NP_001292871.1:n.*2+1G>T | |
| NM_016035.3:c.402+1G>T | NP_057119.2:n.402+1G>T | |
| NM_016035.4:c.402+1G>T | NP_057119.2:n.402+1G>T | |
| XM_011518761.1:c.402+1G>T | XP_011517063.1:n.402+1G>T | |
| XR_929805.1:n.748+1G>T | ||
| XM_017014792.1:c.*2+1G>T | XP_016870281.1:n.*2+1G>T | |
| XM_017014793.1:c.*2+1G>T | XP_016870282.1:n.*2+1G>T | |
| XR_001746316.2:n.655+1G>T | ||
| XR_929805.3:n.748+1G>T | ||
| NM_016035.5:c.402+1G>T MANE Select | NP_057119.3:n.402+1G>T | |
| NM_001305942.2:c.*2+1G>T | NP_001292871.2:n.*2+1G>T |