Linked Data
ClinVar Variation Id:
132997
dbSNP Id:
rs143987857
ExAC:
19:39016132 G / A
gnomAD v2:
19-39016132-G-A
gnomAD v3:
19-38525492-G-A
gnomAD v4:
19-38525492-G-A
ERepo:
CA023847/MONDO:0018493/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38525492G>A , CM000681.2:g.38525492G>A | GRCh38 |
| NC_000019.9:g.39016132G>A , CM000681.1:g.39016132G>A | GRCh37 |
| NC_000019.8:g.43707972G>A | NCBI36 |
| NG_008866.1:g.96793G>A , LRG_766:g.96793G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.10555G>A | ENSP00000471601.2:n.10555G>A | |
| ENST00000359596.8:c.10616G>A MANE Select | ENSP00000352608.2:p.Arg3539His | |
| ENST00000355481.8:c.10601G>A | ENSP00000347667.3:p.Arg3534His | |
| ENST00000359596.7:c.10616G>A | ENSP00000352608.2:p.Arg3539His | |
| ENST00000360985.7:c.10598G>A | ENSP00000354254.4:p.Arg3533His | |
| ENST00000594335.5:c.4003G>A | ||
| ENST00000599547.5:c.1423G>A | ||
| NM_000540.2:c.10616G>A , LRG_766t1:c.10616G>A | NP_000531.2:p.Arg3539His | |
| NM_001042723.1:c.10601G>A | NP_001036188.1:p.Arg3534His | |
| XM_006723317.1:c.10616G>A | XP_006723380.1:p.Arg3539His | |
| XM_006723319.1:c.10601G>A | XP_006723382.1:p.Arg3534His | |
| XM_011527204.1:c.10613G>A | XP_011525506.1:p.Arg3538His | |
| XM_011527205.1:c.10616G>A | XP_011525507.1:p.Arg3539His | |
| XM_006723317.2:c.10616G>A | XP_006723380.1:p.Arg3539His | |
| XM_006723319.2:c.10601G>A | XP_006723382.1:p.Arg3534His | |
| XM_011527205.2:c.10616G>A | XP_011525507.1:p.Arg3539His | |
| NM_000540.3:c.10616G>A MANE Select | NP_000531.2:p.Arg3539His | |
| NM_001042723.2:c.10601G>A | NP_001036188.1:p.Arg3534His |