Linked Data
ClinVar Variation Id:
1465835
ClinVar RCV Id:
RCV001979456
dbSNP Id:
rs760363531
gnomAD v4:
19-38564976-C-G
MyVariant Identifiers:
chr19:g.39055616C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38564976C>G , CM000681.2:g.38564976C>G | GRCh38 |
| NC_000019.9:g.39055616C>G , CM000681.1:g.39055616C>G | GRCh37 |
| NC_000019.8:g.43747456C>G | NCBI36 |
| NG_008866.1:g.136277C>G , LRG_766:g.136277C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.1052C>G | ||
| ENST00000689936.1:c.1034C>G | ||
| ENST00000359596.8:c.12642C>G MANE Select | ENSP00000352608.2:p.Arg4214= | |
| ENST00000355481.8:c.12627C>G | ENSP00000347667.3:p.Arg4209= | |
| ENST00000359596.7:c.12642C>G | ENSP00000352608.2:p.Arg4214= | |
| ENST00000360985.7:c.12624C>G | ENSP00000354254.4:p.Arg4208= | |
| ENST00000594335.5:c.6011C>G | ||
| NM_000540.2:c.12642C>G , LRG_766t1:c.12642C>G | NP_000531.2:p.Arg4214= | |
| NM_001042723.1:c.12627C>G | NP_001036188.1:p.Arg4209= | |
| XM_006723317.1:c.12624C>G | XP_006723380.1:p.Arg4208= | |
| XM_006723319.1:c.12609C>G | XP_006723382.1:p.Arg4203= | |
| XM_011527204.1:c.12639C>G | XP_011525506.1:p.Arg4213= | |
| XM_011527205.1:c.12642C>G | XP_011525507.1:p.Arg4214= | |
| XM_006723317.2:c.12624C>G | XP_006723380.1:p.Arg4208= | |
| XM_006723319.2:c.12609C>G | XP_006723382.1:p.Arg4203= | |
| XM_011527205.2:c.12642C>G | XP_011525507.1:p.Arg4214= | |
| NM_000540.3:c.12642C>G MANE Select | NP_000531.2:p.Arg4214= | |
| NM_001042723.2:c.12627C>G | NP_001036188.1:p.Arg4209= |