HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21176860A>G , CM000674.2:g.21176860A>G | GRCh38 |
NC_000012.11:g.21329794A>G , CM000674.1:g.21329794A>G | GRCh37 |
NC_000012.10:g.21221061A>G | NCBI36 |
NG_011745.1:g.50667A>G , LRG_1022:g.50667A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256958.3:c.444A>G MANE Select | ENSP00000256958.2:p.Leu148= | |
ENST00000256958.2:c.444A>G | ENSP00000256958.2:p.Leu148= | |
ENST00000543498.5:c.510A>G | ||
NM_006446.4:c.444A>G , LRG_1022t1:c.444A>G | NP_006437.3:p.Leu148= | |
NM_006446.5:c.444A>G MANE Select | NP_006437.3:p.Leu148= |