Linked Data
dbSNP Id:
rs2363956
ExAC:
19:17394124 T / G
gnomAD v2:
19-17394124-T-G
gnomAD v3:
19-17283315-T-G
gnomAD v4:
19-17283315-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17283315T>G , CM000681.2:g.17283315T>G | GRCh38 |
| NC_000019.9:g.17394124T>G , CM000681.1:g.17394124T>G | GRCh37 |
| NC_000019.8:g.17255124T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000404085.7:c.551T>G MANE Select | ENSP00000384008.3:p.Leu184Trp | |
| ENST00000404261.9:c.551T>G | ENSP00000384753.6:p.Leu184Trp | |
| ENST00000594072.6:c.551T>G | ENSP00000468845.4:p.Leu184Trp | |
| ENST00000651416.1:n.768T>G | ||
| ENST00000652132.1:c.518T>G | ENSP00000498416.1:p.Leu173Trp | |
| ENST00000394458.7:c.713T>G | ENSP00000377971.4:p.Leu238Trp | |
| ENST00000404085.5:c.*450T>G | ENSP00000384008.2:n.*450T>G | |
| ENST00000404261.8:c.713T>G | ENSP00000384753.5:p.Leu238Trp | |
| ENST00000594072.5:c.713T>G | ENSP00000468845.3:p.Leu238Trp | |
| ENST00000596626.1:n.664T>G | ||
| ENST00000598347.2:c.553T>G | ||
| NM_001278443.1:c.680T>G | NP_001265372.1:p.Leu227Trp | |
| NM_001278444.1:c.713T>G | NP_001265373.1:p.Leu238Trp | |
| NM_001278445.1:c.617T>G | NP_001265374.1:p.Leu206Trp | |
| NM_152363.5:c.713T>G | NP_689576.5:p.Leu238Trp | |
| NR_103530.1:n.827T>G | ||
| NM_001278443.2:c.518T>G | NP_001265372.2:p.Leu173Trp | |
| NM_001278444.2:c.551T>G | NP_001265373.2:p.Leu184Trp | |
| NM_001278445.2:c.509T>G | NP_001265374.2:p.Leu170Trp | |
| NM_152363.6:c.551T>G MANE Select | NP_689576.6:p.Leu184Trp | |
| NR_103530.2:n.571T>G |