Linked Data
dbSNP Id:
rs748319385
ExAC:
20:56140478 A / G
gnomAD v2:
20-56140478-A-G
gnomAD v3:
20-57565422-A-G
gnomAD v4:
20-57565422-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565422A>G , CM000682.2:g.57565422A>G | GRCh38 |
| NC_000020.10:g.56140478A>G , CM000682.1:g.56140478A>G | GRCh37 |
| NC_000020.9:g.55573884A>G | NCBI36 |
| NG_008205.1:g.9342A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1487A>G MANE Select | ENSP00000319814.4:p.His496Arg | |
| ENST00000319441.5:c.1487A>G | ENSP00000319814.4:p.His496Arg | |
| ENST00000467047.1:n.4129A>G | ||
| NM_002591.3:c.1487A>G | NP_002582.3:p.His496Arg | |
| XM_011528839.1:c.1091A>G | XP_011527141.1:p.His364Arg | |
| XM_024451888.1:c.1091A>G | XP_024307656.1:p.His364Arg | |
| NM_002591.4:c.1487A>G MANE Select | NP_002582.3:p.His496Arg |