Linked Data
ClinVar Variation Id:
2053585
ClinVar RCV Id:
RCV002922622
dbSNP Id:
rs762065384
ExAC:
19:39068859 A / G
gnomAD v2:
19-39068859-A-G
gnomAD v3:
19-38578219-A-G
gnomAD v4:
19-38578219-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38578219A>G , CM000681.2:g.38578219A>G | GRCh38 |
| NC_000019.9:g.39068859A>G , CM000681.1:g.39068859A>G | GRCh37 |
| NC_000019.8:g.43760699A>G | NCBI36 |
| NG_008866.1:g.149520A>G , LRG_766:g.149520A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1300+15A>G | ||
| ENST00000688602.1:c.2697+15A>G | ||
| ENST00000689936.1:c.2669+15A>G | ||
| ENST00000359596.8:c.14364+15A>G MANE Select | ENSP00000352608.2:n.14364+15A>G | |
| ENST00000355481.8:c.14349+15A>G | ENSP00000347667.3:n.14349+15A>G | |
| ENST00000359596.7:c.14364+15A>G | ENSP00000352608.2:n.14364+15A>G | |
| ENST00000360985.7:c.14346+15A>G | ENSP00000354254.4:n.14346+15A>G | |
| NM_000540.2:c.14364+15A>G , LRG_766t1:c.14364+15A>G | NP_000531.2:n.14364+15A>G | |
| NM_001042723.1:c.14349+15A>G | NP_001036188.1:n.14349+15A>G | |
| XM_006723317.1:c.14346+15A>G | XP_006723380.1:n.14346+15A>G | |
| XM_006723319.1:c.14331+15A>G | XP_006723382.1:n.14331+15A>G | |
| XM_011527204.1:c.14361+15A>G | XP_011525506.1:n.14361+15A>G | |
| XM_011527205.1:c.14277+15A>G | XP_011525507.1:n.14277+15A>G | |
| XM_006723317.2:c.14346+15A>G | XP_006723380.1:n.14346+15A>G | |
| XM_006723319.2:c.14331+15A>G | XP_006723382.1:n.14331+15A>G | |
| XM_011527205.2:c.14277+15A>G | XP_011525507.1:n.14277+15A>G | |
| NM_000540.3:c.14364+15A>G MANE Select | NP_000531.2:n.14364+15A>G | |
| NM_001042723.2:c.14349+15A>G | NP_001036188.1:n.14349+15A>G |