Linked Data
dbSNP Id:
rs771242993
ExAC:
17:7357796 A / G
gnomAD v2:
17-7357796-A-G
gnomAD v4:
17-7454477-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454477A>G , CM000679.2:g.7454477A>G | GRCh38 |
| NC_000017.10:g.7357796A>G , CM000679.1:g.7357796A>G | GRCh37 |
| NC_000017.9:g.7298520A>G | NCBI36 |
| NG_008026.1:g.14391A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1001A>G MANE Select | ENSP00000304290.2:p.His334Arg | |
| ENST00000306071.6:c.1001A>G | ENSP00000304290.2:p.His334Arg | |
| ENST00000536404.6:c.785A>G | ENSP00000439209.2:p.His262Arg | |
| ENST00000570557.5:c.664A>G | ||
| ENST00000573209.1:n.1945A>G | ||
| ENST00000576360.1:c.638A>G | ENSP00000459092.1:p.His213Arg | |
| NM_000747.2:c.1001A>G | NP_000738.2:p.His334Arg | |
| NM_000747.3:c.1001A>G MANE Select | NP_000738.2:p.His334Arg |