Linked Data
dbSNP Id:
rs745734024
ExAC:
20:53267014 A / G
gnomAD v2:
20-53267014-A-G
gnomAD v4:
20-54650475-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54650475A>G , CM000682.2:g.54650475A>G | GRCh38 |
| NC_000020.10:g.53267014A>G , CM000682.1:g.53267014A>G | GRCh37 |
| NC_000020.9:g.52700421A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262593.10:c.917A>G MANE Select | ENSP00000262593.5:p.His306Arg | |
| ENST00000262593.9:c.917A>G | ENSP00000262593.5:p.His306Arg | |
| ENST00000395939.5:c.593A>G | ENSP00000379270.1:p.His198Arg | |
| NM_018431.4:c.917A>G | NP_060901.2:p.His306Arg | |
| NM_177959.2:c.593A>G | NP_808874.1:p.His198Arg | |
| XM_011528903.1:c.881A>G | XP_011527205.1:p.His294Arg | |
| XM_011528904.1:c.593A>G | XP_011527206.1:p.His198Arg | |
| XM_024451946.1:c.881A>G | XP_024307714.1:p.His294Arg | |
| NM_018431.5:c.917A>G MANE Select | NP_060901.2:p.His306Arg | |
| NM_177959.3:c.593A>G | NP_808874.1:p.His198Arg |