HGVS | Genome Assembly |
---|---|
NC_000001.11:g.22120369G>C , CM000663.2:g.22120369G>C | GRCh38 |
NC_000001.10:g.22446862G>C , CM000663.1:g.22446862G>C | GRCh37 |
NC_000001.9:g.22319449G>C | NCBI36 |
NG_008974.1:g.27658C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290167.11:c.737C>G MANE Select | ENSP00000290167.5:p.Pro246Arg | |
ENST00000290167.10:c.737C>G | ENSP00000290167.5:p.Pro246Arg | |
NM_030761.4:c.737C>G | NP_110388.2:p.Pro246Arg | |
XM_011541597.1:c.803C>G | XP_011539899.1:p.Pro268Arg | |
XM_011541598.1:c.572C>G | XP_011539900.1:p.Pro191Arg | |
XM_011541597.2:c.803C>G | XP_011539899.1:p.Pro268Arg | |
XM_011541598.2:c.572C>G | XP_011539900.1:p.Pro191Arg | |
NM_030761.5:c.737C>G MANE Select | NP_110388.2:p.Pro246Arg |