Linked Data
ClinVar Variation Id:
199217
ClinVar RCV Id:
RCV000180737
RCV000286783
RCV000341804
RCV000376367
RCV000400216
RCV000721299
RCV001085625
dbSNP Id:
rs539194350
gnomAD v2:
19-39055930-G-A
gnomAD v3:
19-38565290-G-A
gnomAD v4:
19-38565290-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38565290G>A , CM000681.2:g.38565290G>A | GRCh38 |
| NC_000019.9:g.39055930G>A , CM000681.1:g.39055930G>A | GRCh37 |
| NC_000019.8:g.43747770G>A | NCBI36 |
| NG_008866.1:g.136591G>A , LRG_766:g.136591G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.1366G>A | ||
| ENST00000689936.1:c.1348G>A | ||
| ENST00000359596.8:c.12956G>A MANE Select | ENSP00000352608.2:p.Arg4319Gln | |
| ENST00000355481.8:c.12941G>A | ENSP00000347667.3:p.Arg4314Gln | |
| ENST00000359596.7:c.12956G>A | ENSP00000352608.2:p.Arg4319Gln | |
| ENST00000360985.7:c.12938G>A | ENSP00000354254.4:p.Arg4313Gln | |
| NM_000540.2:c.12956G>A , LRG_766t1:c.12956G>A | NP_000531.2:p.Arg4319Gln | |
| NM_001042723.1:c.12941G>A | NP_001036188.1:p.Arg4314Gln | |
| XM_006723317.1:c.12938G>A | XP_006723380.1:p.Arg4313Gln | |
| XM_006723319.1:c.12923G>A | XP_006723382.1:p.Arg4308Gln | |
| XM_011527204.1:c.12953G>A | XP_011525506.1:p.Arg4318Gln | |
| XM_011527205.1:c.12956G>A | XP_011525507.1:p.Arg4319Gln | |
| XM_006723317.2:c.12938G>A | XP_006723380.1:p.Arg4313Gln | |
| XM_006723319.2:c.12923G>A | XP_006723382.1:p.Arg4308Gln | |
| XM_011527205.2:c.12956G>A | XP_011525507.1:p.Arg4319Gln | |
| NM_000540.3:c.12956G>A MANE Select | NP_000531.2:p.Arg4319Gln | |
| NM_001042723.2:c.12941G>A | NP_001036188.1:p.Arg4314Gln |