HGVS | Genome Assembly |
---|---|
NC_000001.11:g.197039406A>C , CM000663.2:g.197039406A>C | GRCh38 |
NC_000001.10:g.197008536A>C , CM000663.1:g.197008536A>C | GRCh37 |
NC_000001.9:g.195275159A>C | NCBI36 |
NG_012065.1:g.32862T>G , LRG_550:g.32862T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367412.2:c.1958T>G MANE Select | ENSP00000356382.2:p.Leu653Arg | |
ENST00000649282.1:c.713T>G | ENSP00000497116.1:p.Leu238Arg | |
ENST00000367412.1:c.1958T>G | ENSP00000356382.1:p.Leu653Arg | |
NM_001994.2:c.1958T>G , LRG_550t1:c.1958T>G | NP_001985.2:p.Leu653Arg | |
XM_011509283.2:c.*893T>G | XP_011507585.1:n.*893T>G | |
XM_011509284.2:c.*893T>G | XP_011507586.1:n.*893T>G | |
XM_011509286.2:c.*893T>G | XP_011507588.1:n.*893T>G | |
NM_001994.3:c.1958T>G MANE Select | NP_001985.2:p.Leu653Arg |