HGVS | Genome Assembly |
---|---|
NC_000001.11:g.54999238C>T , CM000663.2:g.54999238C>T | GRCh38 |
NC_000001.10:g.55464911C>T , CM000663.1:g.55464911C>T | GRCh37 |
NC_000001.9:g.55237499C>T | NCBI36 |
NG_008965.1:g.5295C>T | |
NG_008965.2:g.5306C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651561.1:c.52C>T MANE Select | ENSP00000498282.1:p.Leu18= | |
ENST00000371265.4:c.52C>T | ENSP00000360312.4:p.Leu18= | |
NM_057176.2:c.52C>T | NP_476517.1:p.Leu18= | |
NM_057176.3:c.52C>T MANE Select | NP_476517.1:p.Leu18= |