HGVS | Genome Assembly |
---|---|
NC_000005.10:g.74685475T= , CM000667.2:g.74685475T= | GRCh38 |
NC_000005.9:g.73981300T= , CM000667.1:g.73981300T= | GRCh37 |
NC_000005.8:g.74017056T= | NCBI36 |
NG_009770.1:g.5332T= | |
NG_009770.2:g.50453T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261416.12:c.215T= MANE Select | ENSP00000261416.7:p.Leu72= | |
ENST00000261416.11:c.215T= | ENSP00000261416.7:p.Leu72= | |
ENST00000511181.5:c.-376-3853T= | ENSP00000426285.1:n.-376-3853T= | |
ENST00000513079.5:n.280T= | ||
ENST00000515528.1:n.270T= | ||
NM_000521.3:c.215T= | NP_000512.1:p.Leu72= | |
NM_001292004.1:c.-376-3853T= | NP_001278933.1:n.-376-3853T= | |
NM_000521.4:c.215T= MANE Select | NP_000512.2:p.Leu72= | |
NM_001292004.2:c.-376-3853T= | NP_001278933.1:n.-376-3853T= |