Linked Data
dbSNP Id:
rs1649127294
gnomAD v3:
1-77918150-A-G
gnomAD v4:
1-77918150-A-G
MyVariant Identifiers:
chr1:g.78383835A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77918150A>G , CM000663.2:g.77918150A>G | GRCh38 |
| NC_000001.10:g.78383835A>G , CM000663.1:g.78383835A>G | GRCh37 |
| NC_000001.9:g.78156423A>G | NCBI36 |
| NG_016625.1:g.34636A>G , LRG_442:g.34636A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.324A>G MANE Select | ENSP00000333938.7:p.Glu108= | |
| ENST00000330010.12:c.132A>G | ENSP00000327363.8:p.Glu44= | |
| ENST00000334785.11:c.324A>G | ENSP00000333938.7:p.Glu108= | |
| ENST00000342754.5:c.23A>G | ||
| ENST00000401035.7:c.132A>G | ENSP00000383814.3:p.Glu44= | |
| ENST00000440324.5:c.324A>G | ENSP00000411902.1:p.Glu108= | |
| NM_001172309.1:c.132A>G | NP_001165780.1:p.Glu44= | |
| NM_144573.3:c.324A>G , LRG_442t1:c.324A>G | NP_653174.3:p.Glu108= | |
| XM_005271322.2:c.324A>G | XP_005271379.1:p.Glu108= | |
| XM_005271323.2:c.324A>G | XP_005271380.1:p.Glu108= | |
| XM_005271324.3:c.132A>G | XP_005271381.1:p.Glu44= | |
| XM_005271325.2:c.324A>G | XP_005271382.1:p.Glu108= | |
| XM_005271326.2:c.132A>G | XP_005271383.1:p.Glu44= | |
| XM_005271327.2:c.324A>G | XP_005271384.1:p.Glu108= | |
| XM_005271322.4:c.324A>G | XP_005271379.1:p.Glu108= | |
| XM_005271323.4:c.324A>G | XP_005271380.1:p.Glu108= | |
| XM_005271324.5:c.132A>G | XP_005271381.1:p.Glu44= | |
| XM_005271325.4:c.324A>G | XP_005271382.1:p.Glu108= | |
| XM_005271326.4:c.132A>G | XP_005271383.1:p.Glu44= | |
| XM_005271327.4:c.324A>G | XP_005271384.1:p.Glu108= | |
| NM_001172309.2:c.132A>G | NP_001165780.1:p.Glu44= | |
| NM_144573.4:c.324A>G MANE Select | NP_653174.3:p.Glu108= |