HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44374679G= , CM000679.2:g.44374679G= | GRCh38 |
NC_000017.10:g.42452047G= , CM000679.1:g.42452047G= | GRCh37 |
NC_000017.9:g.39807573G= | NCBI36 |
NG_008331.1:g.19827C= , LRG_479:g.19827C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.2923C= MANE Select | ENSP00000262407.5:p.Leu975= | |
ENST00000648408.1:c.2354C= | ||
ENST00000262407.5:c.2923C= | ENSP00000262407.5:p.Leu975= | |
ENST00000587295.5:c.253+1154C= | ||
ENST00000588098.1:c.17C= | ||
ENST00000592462.5:n.2434C= | ||
NM_000419.3:c.2923C= , LRG_479t1:c.2923C= | NP_000410.2:p.Leu975= | |
XM_011524749.1:c.2842-209C= | XP_011523051.1:n.2842-209C= | |
XM_011524750.1:c.2923C= | XP_011523052.1:p.Leu975= | |
NM_000419.4:c.2923C= | NP_000410.2:p.Leu975= | |
NM_000419.5:c.2923C= MANE Select | NP_000410.2:p.Leu975= |