Linked Data
ClinVar Variation Id:
405630
dbSNP Id:
rs745356467
gnomAD v3:
12-132673670-G-C
gnomAD v4:
12-132673670-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132673670G>C , CM000674.2:g.132673670G>C | GRCh38 |
| NC_000012.11:g.133250256G>C , CM000674.1:g.133250256G>C | GRCh37 |
| NC_000012.10:g.131760329G>C | NCBI36 |
| NG_033840.1:g.18855C>G , LRG_789:g.18855C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545015.2:n.1291C>G | ||
| ENST00000699982.1:c.1118C>G | ||
| ENST00000699983.1:c.1118C>G | ||
| ENST00000699984.1:c.1118C>G | ||
| ENST00000320574.10:c.1264C>G MANE Select | ENSP00000322570.5:p.His422Asp | |
| ENST00000672742.1:c.*766C>G | ENSP00000500279.1:n.*766C>G | |
| ENST00000320574.9:c.1264C>G | ENSP00000322570.5:p.His422Asp | |
| ENST00000535270.5:c.1183C>G | ENSP00000445753.1:p.His395Asp | |
| ENST00000535934.2:n.1139C>G | ||
| ENST00000537064.5:c.*311C>G | ENSP00000442578.1:n.*311C>G | |
| NM_006231.3:c.1264C>G , LRG_789t1:c.1264C>G | NP_006222.2:p.His422Asp | |
| XM_011534795.1:c.1264C>G | XP_011533097.1:p.His422Asp | |
| XM_011534796.1:c.1135C>G | XP_011533098.1:p.His379Asp | |
| XM_011534797.1:c.343C>G | XP_011533099.1:p.His115Asp | |
| XM_011534799.1:c.1264C>G | XP_011533101.1:p.His422Asp | |
| XM_011534800.1:c.1264C>G | XP_011533102.1:p.His422Asp | |
| XM_011534801.1:c.1264C>G | XP_011533103.1:p.His422Asp | |
| XR_941395.1:n.1473C>G | ||
| XM_011534795.3:c.1264C>G | XP_011533097.1:p.His422Asp | |
| XM_011534797.3:c.343C>G | XP_011533099.1:p.His115Asp | |
| XM_011534799.2:c.1264C>G | XP_011533101.1:p.His422Asp | |
| XR_002957338.1:n.1468C>G | ||
| XR_002957339.1:n.1468C>G | ||
| XR_941395.2:n.1468C>G | ||
| NM_006231.4:c.1264C>G MANE Select | NP_006222.2:p.His422Asp |