Linked Data
ClinVar Variation Id:
371048
ClinVar RCV Id:
RCV000410691
dbSNP Id:
rs1057516964
gnomAD v3:
15-90760657-G-A
gnomAD v4:
15-90760657-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90760657G>A , CM000677.2:g.90760657G>A | GRCh38 |
| NC_000015.9:g.91303887G>A , CM000677.1:g.91303887G>A | GRCh37 |
| NC_000015.8:g.89104891G>A | NCBI36 |
| NG_007272.1:g.48286G>A , LRG_20:g.48286G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.1284G>A MANE Select | ENSP00000347232.3:p.Trp428Ter | |
| ENST00000648453.1:c.1284G>A | ENSP00000497646.1:p.Trp428Ter | |
| ENST00000680772.1:c.1284G>A | ENSP00000506117.1:p.Trp428Ter | |
| ENST00000681142.1:c.1284G>A | ENSP00000506682.1:p.Trp428Ter | |
| ENST00000355112.7:c.1284G>A | ENSP00000347232.3:p.Trp428Ter | |
| ENST00000558599.1:n.412G>A | ||
| ENST00000559724.5:c.*208G>A | ENSP00000453359.1:n.*208G>A | |
| ENST00000560509.5:c.1284G>A | ENSP00000454158.1:p.Trp428Ter | |
| NM_000057.3:c.1284G>A | NP_000048.1:p.Trp428Ter | |
| NM_001287246.1:c.1284G>A | NP_001274175.1:p.Trp428Ter | |
| NM_001287247.1:c.1284G>A | NP_001274176.1:p.Trp428Ter | |
| NM_001287248.1:c.159G>A | NP_001274177.1:p.Trp53Ter | |
| XM_011521881.1:c.-31G>A | XP_011520183.1:n.-31G>A | |
| XM_011521882.1:c.1284G>A | XP_011520184.1:p.Trp428Ter | |
| XM_011521881.2:c.-31G>A | XP_011520183.1:n.-31G>A | |
| XM_011521882.3:c.1284G>A | XP_011520184.1:p.Trp428Ter | |
| NM_000057.4:c.1284G>A MANE Select | NP_000048.1:p.Trp428Ter | |
| NM_001287246.2:c.1284G>A | NP_001274175.1:p.Trp428Ter | |
| NM_001287247.2:c.1284G>A | NP_001274176.1:p.Trp428Ter | |
| NM_001287248.2:c.159G>A | NP_001274177.1:p.Trp53Ter |