Linked Data
ClinVar Variation Id:
127478
dbSNP Id:
rs200389141
ExAC:
15:91304245 C / T
gnomAD v2:
15-91304245-C-T
gnomAD v3:
15-90761015-C-T
gnomAD v4:
15-90761015-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90761015C>T , CM000677.2:g.90761015C>T | GRCh38 |
| NC_000015.9:g.91304245C>T , CM000677.1:g.91304245C>T | GRCh37 |
| NC_000015.8:g.89105249C>T | NCBI36 |
| NG_007272.1:g.48644C>T , LRG_20:g.48644C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.1642C>T MANE Select | ENSP00000347232.3:p.Gln548Ter | |
| ENST00000648453.1:c.1642C>T | ENSP00000497646.1:p.Gln548Ter | |
| ENST00000680772.1:c.1642C>T | ENSP00000506117.1:p.Gln548Ter | |
| ENST00000681142.1:c.1642C>T | ENSP00000506682.1:p.Gln548Ter | |
| ENST00000355112.7:c.1642C>T | ENSP00000347232.3:p.Gln548Ter | |
| ENST00000559724.5:c.*566C>T | ENSP00000453359.1:n.*566C>T | |
| ENST00000560509.5:c.1642C>T | ENSP00000454158.1:p.Gln548Ter | |
| NM_000057.3:c.1642C>T | NP_000048.1:p.Gln548Ter | |
| NM_001287246.1:c.1642C>T | NP_001274175.1:p.Gln548Ter | |
| NM_001287247.1:c.1642C>T | NP_001274176.1:p.Gln548Ter | |
| NM_001287248.1:c.517C>T | NP_001274177.1:p.Gln173Ter | |
| XM_011521881.1:c.328C>T | XP_011520183.1:p.Gln110Ter | |
| XM_011521882.1:c.1642C>T | XP_011520184.1:p.Gln548Ter | |
| XM_011521881.2:c.328C>T | XP_011520183.1:p.Gln110Ter | |
| XM_011521882.3:c.1642C>T | XP_011520184.1:p.Gln548Ter | |
| NM_000057.4:c.1642C>T MANE Select | NP_000048.1:p.Gln548Ter | |
| NM_001287246.2:c.1642C>T | NP_001274175.1:p.Gln548Ter | |
| NM_001287247.2:c.1642C>T | NP_001274176.1:p.Gln548Ter | |
| NM_001287248.2:c.517C>T | NP_001274177.1:p.Gln173Ter |