HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117835456T>C , CM000670.2:g.117835456T>C | GRCh38 |
NC_000008.10:g.118847695T>C , CM000670.1:g.118847695T>C | GRCh37 |
NC_000008.9:g.118916876T>C | NCBI36 |
NG_007455.2:g.281364A>G , LRG_493:g.281364A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.619A>G | ||
ENST00000378204.7:c.1152A>G MANE Select | ENSP00000367446.3:p.Arg384= | |
ENST00000436216.2:c.520A>G | ||
ENST00000378204.6:c.1152A>G | ENSP00000367446.2:p.Arg384= | |
ENST00000436216.1:c.520A>G | ||
ENST00000437196.1:c.*43A>G | ENSP00000407299.1:n.*43A>G | |
NM_000127.2:c.1152A>G , LRG_493t1:c.1152A>G | NP_000118.2:p.Arg384= | |
NM_000127.3:c.1152A>G MANE Select | NP_000118.2:p.Arg384= |