Linked Data
ClinVar Variation Id:
424121
dbSNP Id:
rs1064796807
gnomAD v2:
11-34938336-G-A
gnomAD v4:
11-34916789-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34916789G>A , CM000673.2:g.34916789G>A | GRCh38 |
| NC_000011.9:g.34938336G>A , CM000673.1:g.34938336G>A | GRCh37 |
| NC_000011.8:g.34894912G>A | NCBI36 |
| NG_013368.1:g.5660G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000448838.8:c.-21+303G>A | ENSP00000389404.3:n.-21+303G>A | |
| ENST00000227868.9:c.134G>A MANE Select | ENSP00000227868.4:p.Trp45Ter | |
| ENST00000227868.8:c.134G>A | ENSP00000227868.4:p.Trp45Ter | |
| ENST00000430469.6:c.134G>A | ENSP00000415695.2:p.Trp45Ter | |
| ENST00000448838.7:c.115+303G>A | ENSP00000389404.2:n.115+303G>A | |
| ENST00000533262.1:c.134G>A | ENSP00000432277.1:p.Trp45Ter | |
| ENST00000533550.5:c.-21+851G>A | ENSP00000431281.1:n.-21+851G>A | |
| NM_001135024.1:c.115+303G>A | NP_001128496.1:n.115+303G>A | |
| NM_001166158.1:c.134G>A | NP_001159630.1:p.Trp45Ter | |
| NM_003477.2:c.134G>A | NP_003468.2:p.Trp45Ter | |
| XM_011520390.1:c.-21+851G>A | XP_011518692.1:n.-21+851G>A | |
| NM_003477.3:c.134G>A MANE Select | NP_003468.2:p.Trp45Ter | |
| NM_001135024.2:c.-21+303G>A | NP_001128496.2:n.-21+303G>A | |
| NM_001166158.2:c.134G>A | NP_001159630.1:p.Trp45Ter |