Linked Data
ClinVar Variation Id:
240210
ClinVar RCV Id:
RCV001452392
dbSNP Id:
rs755193751
gnomAD v4:
5-132589699-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132589699A>T , CM000667.2:g.132589699A>T | GRCh38 |
| NC_000005.9:g.131925391A>T , CM000667.1:g.131925391A>T | GRCh37 |
| NC_000005.8:g.131953290A>T | NCBI36 |
| NG_021151.1:g.37776A>T | |
| NG_021151.2:g.37723A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1314A>T MANE Select | ENSP00000368100.4:p.Gly438= | |
| ENST00000638452.2:c.1017A>T | ENSP00000492349.2:p.Gly339= | |
| ENST00000638504.1:n.1000A>T | ||
| ENST00000638568.2:c.1017A>T | ENSP00000491158.2:p.Gly339= | |
| ENST00000639899.1:n.1833A>T | ||
| ENST00000640655.2:c.1017A>T | ENSP00000491596.2:p.Gly339= | |
| ENST00000651160.1:c.1314A>T | ENSP00000498829.1:p.Gly438= | |
| ENST00000651541.1:c.1017A>T | ENSP00000498795.1:p.Gly339= | |
| ENST00000651658.1:n.1741A>T | ||
| ENST00000651723.1:c.*1397A>T | ENSP00000498237.1:n.*1397A>T | |
| ENST00000652016.1:c.1314A>T | ENSP00000498267.1:p.Gly438= | |
| ENST00000652485.1:c.1314A>T | ENSP00000498973.1:p.Gly438= | |
| ENST00000378823.7:c.1314A>T | ENSP00000368100.4:p.Gly438= | |
| ENST00000423956.5:c.1314A>T | ENSP00000390971.1:p.Gly438= | |
| ENST00000453394.5:c.1314A>T | ENSP00000400049.1:p.Gly438= | |
| ENST00000533482.5:c.*940A>T | ENSP00000431225.1:n.*940A>T | |
| NM_005732.3:c.1314A>T | NP_005723.2:p.Gly438= | |
| NM_005732.4:c.1314A>T MANE Select | NP_005723.2:p.Gly438= |