HGVS | Genome Assembly |
---|---|
NC_000003.12:g.69119412G>T , CM000665.2:g.69119412G>T | GRCh38 |
NC_000003.11:g.69168563G>T , CM000665.1:g.69168563G>T | GRCh37 |
NC_000003.10:g.69251253G>T | NCBI36 |
NG_041828.1:g.8184C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000420581.7:c.943C>A MANE Select | ENSP00000414670.3:p.Leu315Ile | |
ENST00000420581.6:c.943C>A | ENSP00000414670.2:p.Leu315Ile | |
ENST00000475434.1:c.943C>A | ENSP00000418645.1:p.Leu315Ile | |
ENST00000489031.5:c.943C>A | ENSP00000417210.1:p.Leu315Ile | |
NM_001304418.1:c.943C>A | NP_001291347.1:p.Leu315Ile | |
NM_198271.4:c.943C>A | NP_938012.2:p.Leu315Ile | |
NM_001304418.3:c.943C>A | NP_001291347.1:p.Leu315Ile | |
NM_198271.5:c.943C>A MANE Select | NP_938012.2:p.Leu315Ile |