Linked Data
ClinVar Variation Id:
30752
dbSNP Id:
rs387906998
ExAC:
11:34938246 G / A
gnomAD v2:
11-34938246-G-A
gnomAD v3:
11-34916699-G-A
gnomAD v4:
11-34916699-G-A
PubMed:
PMID:21937992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34916699G>A , CM000673.2:g.34916699G>A | GRCh38 |
| NC_000011.9:g.34938246G>A , CM000673.1:g.34938246G>A | GRCh37 |
| NC_000011.8:g.34894822G>A | NCBI36 |
| NG_013368.1:g.5570G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000448838.8:c.-21+213G>A | ENSP00000389404.3:n.-21+213G>A | |
| ENST00000227868.9:c.44G>A MANE Select | ENSP00000227868.4:p.Arg15His | |
| ENST00000227868.8:c.44G>A | ENSP00000227868.4:p.Arg15His | |
| ENST00000430469.6:c.44G>A | ENSP00000415695.2:p.Arg15His | |
| ENST00000448838.7:c.115+213G>A | ENSP00000389404.2:n.115+213G>A | |
| ENST00000533262.1:c.44G>A | ENSP00000432277.1:p.Arg15His | |
| ENST00000533550.5:c.-21+761G>A | ENSP00000431281.1:n.-21+761G>A | |
| NM_001135024.1:c.115+213G>A | NP_001128496.1:n.115+213G>A | |
| NM_001166158.1:c.44G>A | NP_001159630.1:p.Arg15His | |
| NM_003477.2:c.44G>A | NP_003468.2:p.Arg15His | |
| XM_011520390.1:c.-21+761G>A | XP_011518692.1:n.-21+761G>A | |
| NM_003477.3:c.44G>A MANE Select | NP_003468.2:p.Arg15His | |
| NM_001135024.2:c.-21+213G>A | NP_001128496.2:n.-21+213G>A | |
| NM_001166158.2:c.44G>A | NP_001159630.1:p.Arg15His |