Linked Data
ClinVar Variation Id:
1054055
dbSNP Id:
rs771526654
ExAC:
12:133249830 C / A
gnomAD v2:
12-133249830-C-A
gnomAD v4:
12-132673244-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132673244C>A , CM000674.2:g.132673244C>A | GRCh38 |
| NC_000012.11:g.133249830C>A , CM000674.1:g.133249830C>A | GRCh37 |
| NC_000012.10:g.131759903C>A | NCBI36 |
| NG_033840.1:g.19281G>T , LRG_789:g.19281G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539215.6:c.101G>T | ||
| ENST00000545015.2:n.1420G>T | ||
| ENST00000699982.1:c.1247G>T | ||
| ENST00000699983.1:c.1247G>T | ||
| ENST00000699984.1:c.1247G>T | ||
| ENST00000320574.10:c.1393G>T MANE Select | ENSP00000322570.5:p.Ala465Ser | |
| ENST00000672742.1:c.*895G>T | ENSP00000500279.1:n.*895G>T | |
| ENST00000320574.9:c.1393G>T | ENSP00000322570.5:p.Ala465Ser | |
| ENST00000535270.5:c.1312G>T | ENSP00000445753.1:p.Ala438Ser | |
| ENST00000535934.2:n.1268G>T | ||
| ENST00000537064.5:c.*440G>T | ENSP00000442578.1:n.*440G>T | |
| ENST00000539215.5:n.101G>T | ||
| NM_006231.3:c.1393G>T , LRG_789t1:c.1393G>T | NP_006222.2:p.Ala465Ser | |
| XM_011534795.1:c.1393G>T | XP_011533097.1:p.Ala465Ser | |
| XM_011534796.1:c.1264G>T | XP_011533098.1:p.Ala422Ser | |
| XM_011534797.1:c.472G>T | XP_011533099.1:p.Ala158Ser | |
| XM_011534798.1:c.55G>T | XP_011533100.1:p.Ala19Ser | |
| XM_011534799.1:c.1393G>T | XP_011533101.1:p.Ala465Ser | |
| XM_011534800.1:c.1393G>T | XP_011533102.1:p.Ala465Ser | |
| XM_011534801.1:c.1393G>T | XP_011533103.1:p.Ala465Ser | |
| XR_941395.1:n.1602G>T | ||
| XM_011534795.3:c.1393G>T | XP_011533097.1:p.Ala465Ser | |
| XM_011534797.3:c.472G>T | XP_011533099.1:p.Ala158Ser | |
| XM_011534799.2:c.1393G>T | XP_011533101.1:p.Ala465Ser | |
| XR_002957338.1:n.1597G>T | ||
| XR_002957339.1:n.1597G>T | ||
| XR_941395.2:n.1597G>T | ||
| NM_006231.4:c.1393G>T MANE Select | NP_006222.2:p.Ala465Ser |