HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120738866T>G , CM000674.2:g.120738866T>G | GRCh38 |
NC_000012.11:g.121176669T>G , CM000674.1:g.121176669T>G | GRCh37 |
NC_000012.10:g.119661052T>G | NCBI36 |
NG_007991.1:g.18099T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000242592.9:c.980T>G MANE Select | ENSP00000242592.4:p.Leu327Arg | |
ENST00000242592.8:c.980T>G | ENSP00000242592.4:p.Leu327Arg | |
ENST00000411593.2:c.968T>G | ENSP00000401045.2:p.Leu323Arg | |
NM_000017.3:c.980T>G | NP_000008.1:p.Leu327Arg | |
NM_001302554.1:c.968T>G | NP_001289483.1:p.Leu323Arg | |
NM_000017.4:c.980T>G MANE Select | NP_000008.1:p.Leu327Arg | |
NM_001302554.2:c.968T>G | NP_001289483.1:p.Leu323Arg |