HGVS | Genome Assembly |
---|---|
NC_000005.10:g.74685435C>T , CM000667.2:g.74685435C>T | GRCh38 |
NC_000005.9:g.73981260C>T , CM000667.1:g.73981260C>T | GRCh37 |
NC_000005.8:g.74017016C>T | NCBI36 |
NG_009770.1:g.5292C>T | |
NG_009770.2:g.50413C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261416.12:c.175C>T MANE Select | ENSP00000261416.7:p.Leu59= | |
ENST00000261416.11:c.175C>T | ENSP00000261416.7:p.Leu59= | |
ENST00000511181.5:c.-376-3893C>T | ENSP00000426285.1:n.-376-3893C>T | |
ENST00000513079.5:n.240C>T | ||
ENST00000515528.1:n.230C>T | ||
NM_000521.3:c.175C>T | NP_000512.1:p.Leu59= | |
NM_001292004.1:c.-376-3893C>T | NP_001278933.1:n.-376-3893C>T | |
NM_000521.4:c.175C>T MANE Select | NP_000512.2:p.Leu59= | |
NM_001292004.2:c.-376-3893C>T | NP_001278933.1:n.-376-3893C>T |