Linked Data
ClinVar Variation Id:
1039244
ClinVar RCV Id:
RCV001342683
dbSNP Id:
rs1599635690
gnomAD v4:
19-38565496-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38565496A>G , CM000681.2:g.38565496A>G | GRCh38 |
| NC_000019.9:g.39056136A>G , CM000681.1:g.39056136A>G | GRCh37 |
| NC_000019.8:g.43747976A>G | NCBI36 |
| NG_008866.1:g.136797A>G , LRG_766:g.136797A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.98A>G | ||
| ENST00000688602.1:c.1572A>G | ||
| ENST00000689936.1:c.1554A>G | ||
| ENST00000359596.8:c.13162A>G MANE Select | ENSP00000352608.2:p.Ser4388Gly | |
| ENST00000355481.8:c.13147A>G | ENSP00000347667.3:p.Ser4383Gly | |
| ENST00000359596.7:c.13162A>G | ENSP00000352608.2:p.Ser4388Gly | |
| ENST00000360985.7:c.13144A>G | ENSP00000354254.4:p.Ser4382Gly | |
| NM_000540.2:c.13162A>G , LRG_766t1:c.13162A>G | NP_000531.2:p.Ser4388Gly | |
| NM_001042723.1:c.13147A>G | NP_001036188.1:p.Ser4383Gly | |
| XM_006723317.1:c.13144A>G | XP_006723380.1:p.Ser4382Gly | |
| XM_006723319.1:c.13129A>G | XP_006723382.1:p.Ser4377Gly | |
| XM_011527204.1:c.13159A>G | XP_011525506.1:p.Ser4387Gly | |
| XM_011527205.1:c.13162A>G | XP_011525507.1:p.Ser4388Gly | |
| XM_006723317.2:c.13144A>G | XP_006723380.1:p.Ser4382Gly | |
| XM_006723319.2:c.13129A>G | XP_006723382.1:p.Ser4377Gly | |
| XM_011527205.2:c.13162A>G | XP_011525507.1:p.Ser4388Gly | |
| NM_000540.3:c.13162A>G MANE Select | NP_000531.2:p.Ser4388Gly | |
| NM_001042723.2:c.13147A>G | NP_001036188.1:p.Ser4383Gly |