Linked Data
ClinVar Variation Id:
390707
dbSNP Id:
rs1057523868
gnomAD v2:
12-133250260-G-A
gnomAD v3:
12-132673674-G-A
gnomAD v4:
12-132673674-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132673674G>A , CM000674.2:g.132673674G>A | GRCh38 |
| NC_000012.11:g.133250260G>A , CM000674.1:g.133250260G>A | GRCh37 |
| NC_000012.10:g.131760333G>A | NCBI36 |
| NG_033840.1:g.18851C>T , LRG_789:g.18851C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545015.2:n.1287C>T | ||
| ENST00000699982.1:c.1114C>T | ||
| ENST00000699983.1:c.1114C>T | ||
| ENST00000699984.1:c.1114C>T | ||
| ENST00000320574.10:c.1260C>T MANE Select | ENSP00000322570.5:p.Gly420= | |
| ENST00000672742.1:c.*762C>T | ENSP00000500279.1:n.*762C>T | |
| ENST00000320574.9:c.1260C>T | ENSP00000322570.5:p.Gly420= | |
| ENST00000535270.5:c.1179C>T | ENSP00000445753.1:p.Gly393= | |
| ENST00000535934.2:n.1135C>T | ||
| ENST00000537064.5:c.*307C>T | ENSP00000442578.1:n.*307C>T | |
| NM_006231.3:c.1260C>T , LRG_789t1:c.1260C>T | NP_006222.2:p.Gly420= | |
| XM_011534795.1:c.1260C>T | XP_011533097.1:p.Gly420= | |
| XM_011534796.1:c.1131C>T | XP_011533098.1:p.Gly377= | |
| XM_011534797.1:c.339C>T | XP_011533099.1:p.Gly113= | |
| XM_011534799.1:c.1260C>T | XP_011533101.1:p.Gly420= | |
| XM_011534800.1:c.1260C>T | XP_011533102.1:p.Gly420= | |
| XM_011534801.1:c.1260C>T | XP_011533103.1:p.Gly420= | |
| XR_941395.1:n.1469C>T | ||
| XM_011534795.3:c.1260C>T | XP_011533097.1:p.Gly420= | |
| XM_011534797.3:c.339C>T | XP_011533099.1:p.Gly113= | |
| XM_011534799.2:c.1260C>T | XP_011533101.1:p.Gly420= | |
| XR_002957338.1:n.1464C>T | ||
| XR_002957339.1:n.1464C>T | ||
| XR_941395.2:n.1464C>T | ||
| NM_006231.4:c.1260C>T MANE Select | NP_006222.2:p.Gly420= |