Linked Data
ClinVar Variation Id:
65923
dbSNP Id:
rs118192120
ExAC:
19:38973951 G / A
gnomAD v2:
19-38973951-G-A
gnomAD v3:
19-38483311-G-A
gnomAD v4:
19-38483311-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38483311G>A , CM000681.2:g.38483311G>A | GRCh38 |
| NC_000019.9:g.38973951G>A , CM000681.1:g.38973951G>A | GRCh37 |
| NC_000019.8:g.43665791G>A | NCBI36 |
| NG_008866.1:g.54612G>A , LRG_766:g.54612G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599547.6:c.4729G>A | ENSP00000471601.2:p.Ala1577Thr | |
| ENST00000359596.8:c.4729G>A MANE Select | ENSP00000352608.2:p.Ala1577Thr | |
| ENST00000355481.8:c.4729G>A | ENSP00000347667.3:p.Ala1577Thr | |
| ENST00000359596.7:c.4729G>A | ENSP00000352608.2:p.Ala1577Thr | |
| ENST00000360985.7:c.4726G>A | ENSP00000354254.4:p.Ala1576Thr | |
| NM_000540.2:c.4729G>A , LRG_766t1:c.4729G>A | NP_000531.2:p.Ala1577Thr | |
| NM_001042723.1:c.4729G>A | NP_001036188.1:p.Ala1577Thr | |
| XM_006723317.1:c.4729G>A | XP_006723380.1:p.Ala1577Thr | |
| XM_006723319.1:c.4729G>A | XP_006723382.1:p.Ala1577Thr | |
| XM_011527204.1:c.4726G>A | XP_011525506.1:p.Ala1576Thr | |
| XM_011527205.1:c.4729G>A | XP_011525507.1:p.Ala1577Thr | |
| XM_006723317.2:c.4729G>A | XP_006723380.1:p.Ala1577Thr | |
| XM_006723319.2:c.4729G>A | XP_006723382.1:p.Ala1577Thr | |
| XM_011527205.2:c.4729G>A | XP_011525507.1:p.Ala1577Thr | |
| XR_001753735.1:n.4812G>A | ||
| NM_000540.3:c.4729G>A MANE Select | NP_000531.2:p.Ala1577Thr | |
| NM_001042723.2:c.4729G>A | NP_001036188.1:p.Ala1577Thr |