Linked Data
ClinVar Variation Id:
329090
ClinVar RCV Id:
RCV000285479
RCV000288960
RCV000342818
RCV000391499
RCV000512826
RCV000556213
RCV001198104
RCV001801799
RCV001820986
RCV002495039
dbSNP Id:
rs199738299
ExAC:
19:39006807 A / G
gnomAD v2:
19-39006807-A-G
gnomAD v3:
19-38516167-A-G
gnomAD v4:
19-38516167-A-G
ERepo:
CA073912/MONDO:0018493/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38516167A>G , CM000681.2:g.38516167A>G | GRCh38 |
| NC_000019.9:g.39006807A>G , CM000681.1:g.39006807A>G | GRCh37 |
| NC_000019.8:g.43698647A>G | NCBI36 |
| NG_008866.1:g.87468A>G , LRG_766:g.87468A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.9574A>G | ENSP00000471601.2:n.9574A>G | |
| ENST00000359596.8:c.9635A>G MANE Select | ENSP00000352608.2:p.Glu3212Gly | |
| ENST00000355481.8:c.9635A>G | ENSP00000347667.3:p.Glu3212Gly | |
| ENST00000359596.7:c.9635A>G | ENSP00000352608.2:p.Glu3212Gly | |
| ENST00000360985.7:c.9632A>G | ENSP00000354254.4:p.Glu3211Gly | |
| ENST00000594335.5:c.3037A>G | ||
| ENST00000599547.5:c.442A>G | ||
| NM_000540.2:c.9635A>G , LRG_766t1:c.9635A>G | NP_000531.2:p.Glu3212Gly | |
| NM_001042723.1:c.9635A>G | NP_001036188.1:p.Glu3212Gly | |
| XM_006723317.1:c.9635A>G | XP_006723380.1:p.Glu3212Gly | |
| XM_006723319.1:c.9635A>G | XP_006723382.1:p.Glu3212Gly | |
| XM_011527204.1:c.9632A>G | XP_011525506.1:p.Glu3211Gly | |
| XM_011527205.1:c.9635A>G | XP_011525507.1:p.Glu3212Gly | |
| XM_006723317.2:c.9635A>G | XP_006723380.1:p.Glu3212Gly | |
| XM_006723319.2:c.9635A>G | XP_006723382.1:p.Glu3212Gly | |
| XM_011527205.2:c.9635A>G | XP_011525507.1:p.Glu3212Gly | |
| XR_001753735.1:n.9668A>G | ||
| NM_000540.3:c.9635A>G MANE Select | NP_000531.2:p.Glu3212Gly | |
| NM_001042723.2:c.9635A>G | NP_001036188.1:p.Glu3212Gly |