Linked Data
ClinVar Variation Id:
1924893
ClinVar RCV Id:
RCV002614138
dbSNP Id:
rs1974132650
gnomAD v3:
19-38580125-A-G
gnomAD v4:
19-38580125-A-G
MyVariant Identifiers:
chr19:g.39070765A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580125A>G , CM000681.2:g.38580125A>G | GRCh38 |
| NC_000019.9:g.39070765A>G , CM000681.1:g.39070765A>G | GRCh37 |
| NC_000019.8:g.43762605A>G | NCBI36 |
| NG_008866.1:g.151426A>G , LRG_766:g.151426A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593677.2:c.1444A>G | ||
| ENST00000688602.1:c.2841A>G | ||
| ENST00000689936.1:c.2813A>G | ||
| ENST00000359596.8:c.14508A>G MANE Select | ENSP00000352608.2:p.Lys4836= | |
| ENST00000355481.8:c.14493A>G | ENSP00000347667.3:p.Lys4831= | |
| ENST00000359596.7:c.14508A>G | ENSP00000352608.2:p.Lys4836= | |
| ENST00000360985.7:c.14490A>G | ENSP00000354254.4:p.Lys4830= | |
| NM_000540.2:c.14508A>G , LRG_766t1:c.14508A>G | NP_000531.2:p.Lys4836= | |
| NM_001042723.1:c.14493A>G | NP_001036188.1:p.Lys4831= | |
| XM_006723317.1:c.14490A>G | XP_006723380.1:p.Lys4830= | |
| XM_006723319.1:c.14475A>G | XP_006723382.1:p.Lys4825= | |
| XM_011527204.1:c.14505A>G | XP_011525506.1:p.Lys4835= | |
| XM_011527205.1:c.14421A>G | XP_011525507.1:p.Lys4807= | |
| XM_006723317.2:c.14490A>G | XP_006723380.1:p.Lys4830= | |
| XM_006723319.2:c.14475A>G | XP_006723382.1:p.Lys4825= | |
| XM_011527205.2:c.14421A>G | XP_011525507.1:p.Lys4807= | |
| NM_000540.3:c.14508A>G MANE Select | NP_000531.2:p.Lys4836= | |
| NM_001042723.2:c.14493A>G | NP_001036188.1:p.Lys4831= |