HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659311G= , CM000685.2:g.136659311G= | GRCh38 |
NC_000023.10:g.135741470G= , CM000685.1:g.135741470G= | GRCh37 |
NC_000023.9:g.135569136G= | NCBI36 |
NG_007280.1:g.16135G= , LRG_141:g.16135G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*300G= | ENSP00000512122.1:n.*300G= | |
ENST00000695725.1:c.*237G= | ENSP00000512123.1:n.*237G= | |
ENST00000695726.1:n.2650G= | ||
ENST00000695729.1:n.3485G= | ||
ENST00000370629.7:c.682G= MANE Select | ENSP00000359663.2:p.Val228= | |
ENST00000370628.2:c.619G= | ENSP00000359662.2:p.Val207= | |
ENST00000370629.6:c.682G= | ENSP00000359663.2:p.Val228= | |
NM_000074.2:c.682G= , LRG_141t1:c.682G= | NP_000065.1:p.Val228= | |
NM_000074.3:c.682G= MANE Select | NP_000065.1:p.Val228= |