Linked Data
ClinVar Variation Id:
3059533
ClinVar RCV Id:
RCV003974504
dbSNP Id:
rs1046295
ExAC:
13:50102810 G / A
gnomAD v2:
13-50102810-G-A
gnomAD v3:
13-49528674-G-A
gnomAD v4:
13-49528674-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.49528674G>A , CM000675.2:g.49528674G>A | GRCh38 |
| NC_000013.10:g.50102810G>A , CM000675.1:g.50102810G>A | GRCh37 |
| NC_000013.9:g.49000811G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378319.8:c.*9G>A MANE Select | ENSP00000367570.3:n.*9G>A | |
| ENST00000357596.7:c.*9G>A | ENSP00000350209.3:n.*9G>A | |
| ENST00000378319.7:c.*9G>A | ENSP00000367570.3:n.*9G>A | |
| ENST00000426879.5:c.869G>A | ||
| ENST00000465045.5:c.*372G>A | ENSP00000418630.1:n.*372G>A | |
| ENST00000486276.1:n.434G>A | ||
| ENST00000488958.5:c.*9G>A | ENSP00000417539.1:n.*9G>A | |
| ENST00000621822.4:c.*313G>A | ENSP00000482432.1:n.*313G>A | |
| NM_001040443.1:c.*9G>A | NP_001035533.1:n.*9G>A | |
| NM_001040444.1:c.*9G>A | NP_001035534.1:n.*9G>A | |
| XM_005266417.2:c.*9G>A | XP_005266474.1:n.*9G>A | |
| XM_006719829.1:c.*9G>A | XP_006719892.1:n.*9G>A | |
| XM_006719830.1:c.*9G>A | XP_006719893.1:n.*9G>A | |
| XM_011535102.1:c.*9G>A | XP_011533404.1:n.*9G>A | |
| XR_941597.1:n.1329G>A | ||
| NM_001040443.2:c.*9G>A | NP_001035533.1:n.*9G>A | |
| NM_001040444.2:c.*9G>A | NP_001035534.1:n.*9G>A | |
| NM_001320727.1:c.*9G>A | NP_001307656.1:n.*9G>A | |
| NR_135322.1:n.1275G>A | ||
| NR_135323.1:n.1374G>A | ||
| NR_135324.1:n.3597G>A | ||
| NM_001040443.3:c.*9G>A MANE Select | NP_001035533.1:n.*9G>A | |
| NM_001320727.2:c.*9G>A | NP_001307656.1:n.*9G>A | |
| NR_135322.2:n.932G>A | ||
| NR_135323.2:n.1324G>A | ||
| NR_135324.2:n.3616G>A |