HGVS | Genome Assembly |
---|---|
NC_000010.11:g.114044529C>T , CM000672.2:g.114044529C>T | GRCh38 |
NC_000010.10:g.115804288C>T , CM000672.1:g.115804288C>T | GRCh37 |
NC_000010.9:g.115794278C>T | NCBI36 |
NG_012187.1:g.5483C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369295.4:c.397C>T MANE Select | ENSP00000358301.2:p.Leu133= | |
ENST00000369295.3:c.397C>T | ENSP00000358301.2:p.Leu133= | |
NM_000684.2:c.397C>T | NP_000675.1:p.Leu133= | |
NM_000684.3:c.397C>T MANE Select | NP_000675.1:p.Leu133= |