HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659166C>A , CM000685.2:g.136659166C>A | GRCh38 |
NC_000023.10:g.135741325C>A , CM000685.1:g.135741325C>A | GRCh37 |
NC_000023.9:g.135568991C>A | NCBI36 |
NG_007280.1:g.15990C>A , LRG_141:g.15990C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*155C>A | ENSP00000512122.1:n.*155C>A | |
ENST00000695725.1:c.*92C>A | ENSP00000512123.1:n.*92C>A | |
ENST00000695726.1:n.2505C>A | ||
ENST00000695729.1:n.3340C>A | ||
ENST00000370629.7:c.537C>A MANE Select | ENSP00000359663.2:p.Ser179= | |
ENST00000370628.2:c.474C>A | ENSP00000359662.2:p.Ser158= | |
ENST00000370629.6:c.537C>A | ENSP00000359663.2:p.Ser179= | |
NM_000074.2:c.537C>A , LRG_141t1:c.537C>A | NP_000065.1:p.Ser179= | |
NM_000074.3:c.537C>A MANE Select | NP_000065.1:p.Ser179= |