Linked Data
ClinVar Variation Id:
161365
ClinVar RCV Id:
RCV000148800
RCV000287628
RCV000281816
RCV000323995
RCV000382036
RCV000725266
RCV001084344
RCV000378617
RCV000990203
dbSNP Id:
rs200950673
ExAC:
19:39008026 A / G
gnomAD v2:
19-39008026-A-G
gnomAD v3:
19-38517386-A-G
gnomAD v4:
19-38517386-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38517386A>G , CM000681.2:g.38517386A>G | GRCh38 |
| NC_000019.9:g.39008026A>G , CM000681.1:g.39008026A>G | GRCh37 |
| NC_000019.8:g.43699866A>G | NCBI36 |
| NG_008866.1:g.88687A>G , LRG_766:g.88687A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.9652A>G | ENSP00000471601.2:n.9652A>G | |
| ENST00000359596.8:c.9713A>G MANE Select | ENSP00000352608.2:p.Glu3238Gly | |
| ENST00000355481.8:c.9713A>G | ENSP00000347667.3:p.Glu3238Gly | |
| ENST00000359596.7:c.9713A>G | ENSP00000352608.2:p.Glu3238Gly | |
| ENST00000360985.7:c.9710A>G | ENSP00000354254.4:p.Glu3237Gly | |
| ENST00000594335.5:c.3115A>G | ||
| ENST00000599547.5:c.520A>G | ||
| NM_000540.2:c.9713A>G , LRG_766t1:c.9713A>G | NP_000531.2:p.Glu3238Gly | |
| NM_001042723.1:c.9713A>G | NP_001036188.1:p.Glu3238Gly | |
| XM_006723317.1:c.9713A>G | XP_006723380.1:p.Glu3238Gly | |
| XM_006723319.1:c.9713A>G | XP_006723382.1:p.Glu3238Gly | |
| XM_011527204.1:c.9710A>G | XP_011525506.1:p.Glu3237Gly | |
| XM_011527205.1:c.9713A>G | XP_011525507.1:p.Glu3238Gly | |
| XM_006723317.2:c.9713A>G | XP_006723380.1:p.Glu3238Gly | |
| XM_006723319.2:c.9713A>G | XP_006723382.1:p.Glu3238Gly | |
| XM_011527205.2:c.9713A>G | XP_011525507.1:p.Glu3238Gly | |
| XR_001753735.1:n.9746A>G | ||
| NM_000540.3:c.9713A>G MANE Select | NP_000531.2:p.Glu3238Gly | |
| NM_001042723.2:c.9713A>G | NP_001036188.1:p.Glu3238Gly |