Linked Data
ClinVar Variation Id:
1155203
ClinVar RCV Id:
RCV001497418
dbSNP Id:
rs1557990801
gnomAD v4:
1-77935828-G-A
MyVariant Identifiers:
chr1:g.78401513G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77935828G>A , CM000663.2:g.77935828G>A | GRCh38 |
| NC_000001.10:g.78401513G>A , CM000663.1:g.78401513G>A | GRCh37 |
| NC_000001.9:g.78174101G>A | NCBI36 |
| NG_016625.1:g.52314G>A , LRG_442:g.52314G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1257G>A MANE Select | ENSP00000333938.7:p.Glu419= | |
| ENST00000330010.12:c.1065G>A | ENSP00000327363.8:p.Glu355= | |
| ENST00000334785.11:c.1257G>A | ENSP00000333938.7:p.Glu419= | |
| ENST00000342754.5:c.956G>A | ||
| ENST00000440324.5:c.1215G>A | ENSP00000411902.1:p.Glu405= | |
| ENST00000464998.1:n.717G>A | ||
| ENST00000480732.2:n.831G>A | ||
| NM_001172309.1:c.1065G>A | NP_001165780.1:p.Glu355= | |
| NM_144573.3:c.1257G>A , LRG_442t1:c.1257G>A | NP_653174.3:p.Glu419= | |
| XM_005271322.2:c.1257G>A | XP_005271379.1:p.Glu419= | |
| XM_005271323.2:c.1215G>A | XP_005271380.1:p.Glu405= | |
| XM_005271324.3:c.1065G>A | XP_005271381.1:p.Glu355= | |
| XM_005271325.2:c.1251+2349G>A | XP_005271382.1:n.1251+2349G>A | |
| XM_005271326.2:c.1023G>A | XP_005271383.1:p.Glu341= | |
| XM_005271327.2:c.840G>A | XP_005271384.1:p.Glu280= | |
| XM_005271322.4:c.1257G>A | XP_005271379.1:p.Glu419= | |
| XM_005271323.4:c.1215G>A | XP_005271380.1:p.Glu405= | |
| XM_005271324.5:c.1065G>A | XP_005271381.1:p.Glu355= | |
| XM_005271325.4:c.1251+2349G>A | XP_005271382.1:n.1251+2349G>A | |
| XM_005271326.4:c.1023G>A | XP_005271383.1:p.Glu341= | |
| XM_005271327.4:c.840G>A | XP_005271384.1:p.Glu280= | |
| NM_001172309.2:c.1065G>A | NP_001165780.1:p.Glu355= | |
| NM_144573.4:c.1257G>A MANE Select | NP_653174.3:p.Glu419= |