HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1014140C= , CM000663.2:g.1014140C= | GRCh38 |
NC_000001.10:g.949520C= , CM000663.1:g.949520C= | GRCh37 |
NC_000001.9:g.939383C= | NCBI36 |
NG_033033.1:g.5674C= | |
NG_033033.2:g.18003C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000624697.4:c.136C= | ENSP00000485643.1:p.Leu46= | |
ENST00000649529.1:c.160C= MANE Select | ENSP00000496832.1:p.Leu54= | |
ENST00000379389.4:c.160C= | ENSP00000368699.4:p.Leu54= | |
ENST00000624652.1:c.136C= | ENSP00000485313.1:p.Leu46= | |
ENST00000624697.3:c.136C= | ENSP00000485643.1:p.Leu46= | |
NM_005101.3:c.160C= | NP_005092.1:p.Leu54= | |
NM_005101.4:c.160C= MANE Select | NP_005092.1:p.Leu54= |