HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37768121C>T , CM000684.2:g.37768121C>T | GRCh38 |
NC_000022.10:g.38164128C>T , CM000684.1:g.38164128C>T | GRCh37 |
NC_000022.9:g.36494074C>T | NCBI36 |
NG_012857.1:g.76134C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.6520C>T MANE Select | ENSP00000496394.1:p.Leu2174= | |
ENST00000344404.10:c.*6003C>T | ENSP00000340312.6:n.*6003C>T | |
ENST00000403663.6:c.1381C>T | ENSP00000386026.2:p.Leu461= | |
ENST00000406386.7:c.6520C>T | ENSP00000384312.3:p.Leu2174= | |
NM_001039141.2:c.6520C>T | NP_001034230.1:p.Leu2174= | |
NM_007032.5:c.1381C>T | NP_008963.3:p.Leu461= | |
NM_001039141.3:c.6520C>T MANE Select | NP_001034230.1:p.Leu2174= |