Linked Data
dbSNP Id:
rs762885909
ExAC:
19:50333794 G / C
gnomAD v2:
19-50333794-G-C
gnomAD v4:
19-49830537-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49830537G>C , CM000681.2:g.49830537G>C | GRCh38 |
| NC_000019.9:g.50333794G>C , CM000681.1:g.50333794G>C | GRCh37 |
| NC_000019.8:g.55025606G>C | NCBI36 |
| NG_017091.1:g.17259G>C , LRG_368:g.17259G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593767.3:c.846G>C | ENSP00000470692.3:p.Gln282His | |
| ENST00000312865.10:c.846G>C MANE Select | ENSP00000326767.5:p.Gln282His | |
| ENST00000538643.5:c.207G>C | ENSP00000437496.1:p.Gln69His | |
| ENST00000595185.5:c.688+589G>C | ENSP00000470027.1:n.688+589G>C | |
| ENST00000612791.4:c.761+375G>C | ENSP00000479851.1:n.761+375G>C | |
| ENST00000612854.4:c.450+1522G>C | ENSP00000482155.1:n.450+1522G>C | |
| ENST00000617849.4:c.158-202G>C | ENSP00000484882.1:n.158-202G>C | |
| ENST00000618715.4:c.158-201G>C | ENSP00000480731.1:n.158-201G>C | |
| ENST00000620467.4:c.846G>C | ENSP00000482659.1:p.Gln282His | |
| ENST00000622402.4:c.146-5290G>C | ENSP00000478074.1:n.146-5290G>C | |
| NM_030973.3:c.846G>C , LRG_368t1:c.846G>C | NP_112235.2:p.Gln282His | |
| XM_011527353.1:c.846G>C | XP_011525655.1:p.Gln282His | |
| NM_001378355.1:c.846G>C | NP_001365284.1:p.Gln282His | |
| NM_030973.4:c.846G>C MANE Select | NP_112235.2:p.Gln282His |