Linked Data
dbSNP Id:
rs4148546
gnomAD v2:
13-95680285-G-A
gnomAD v3:
13-95028031-G-A
gnomAD v4:
13-95028031-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.95028031G>A , CM000675.2:g.95028031G>A | GRCh38 |
| NC_000013.10:g.95680285G>A , CM000675.1:g.95680285G>A | GRCh37 |
| NC_000013.9:g.94478286G>A | NCBI36 |
| NG_050651.1:g.278416C>T | |
| NG_050651.2:g.278416C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000471041.2:n.741-6349C>T | ||
| ENST00000643051.1:c.*1782-6349C>T | ENSP00000495513.1:n.*1782-6349C>T | |
| ENST00000643842.1:c.*3917-6349C>T | ENSP00000493861.1:n.*3917-6349C>T | |
| ENST00000645237.2:c.3871-6349C>T MANE Select | ENSP00000494609.1:n.3871-6349C>T | |
| ENST00000646439.1:c.3730-6349C>T | ENSP00000494751.1:n.3730-6349C>T | |
| ENST00000376887.8:c.3871-6349C>T | ENSP00000366084.4:n.3871-6349C>T | |
| NM_001301829.1:c.3730-6349C>T | NP_001288758.1:n.3730-6349C>T | |
| NM_005845.4:c.3871-6349C>T | NP_005836.2:n.3871-6349C>T | |
| XM_005254025.2:c.3742-6349C>T | XP_005254082.1:n.3742-6349C>T | |
| XM_006719914.1:c.3781-6349C>T | XP_006719977.1:n.3781-6349C>T | |
| XM_011521047.1:c.3322-6349C>T | XP_011519349.1:n.3322-6349C>T | |
| XM_017020319.1:c.3742-6349C>T | XP_016875808.1:n.3742-6349C>T | |
| XM_017020321.1:c.2356-6349C>T | XP_016875810.1:n.2356-6349C>T | |
| NM_001301829.2:c.3730-6349C>T | NP_001288758.1:n.3730-6349C>T | |
| NM_005845.5:c.3871-6349C>T MANE Select | NP_005836.2:n.3871-6349C>T |