HGVS | Genome Assembly |
---|---|
NC_000007.14:g.135645005T>G , CM000669.2:g.135645005T>G | GRCh38 |
NC_000007.13:g.135329753T>G , CM000669.1:g.135329753T>G | GRCh37 |
NC_000007.12:g.134980293T>G | NCBI36 |
NG_051184.1:g.92092T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000285968.11:c.5670T>G MANE Select | ENSP00000285968.6:p.Leu1890= | |
ENST00000285968.10:c.5670T>G | ENSP00000285968.6:p.Leu1890= | |
ENST00000461255.5:n.877T>G | ||
ENST00000477620.5:c.1405+27T>G | ||
ENST00000490439.1:c.107T>G | ||
ENST00000607647.5:n.3948T>G | ||
NM_015135.2:c.5670T>G | NP_055950.1:p.Leu1890= | |
XM_005250235.2:c.4596T>G | XP_005250292.1:p.Leu1532= | |
NM_001329434.1:c.4596T>G | NP_001316363.1:p.Leu1532= | |
NM_015135.3:c.5670T>G MANE Select | NP_055950.2:p.Leu1890= | |
NM_001329434.2:c.4596T>G | NP_001316363.2:p.Leu1532= |