HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44372410T>G , CM000679.2:g.44372410T>G | GRCh38 |
NC_000017.10:g.42449778T>G , CM000679.1:g.42449778T>G | GRCh37 |
NC_000017.9:g.39805304T>G | NCBI36 |
NG_008331.1:g.22096A>C , LRG_479:g.22096A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.3074A>C MANE Select | ENSP00000262407.5:p.Lys1025Thr | |
ENST00000648408.1:c.2388A>C | ||
ENST00000262407.5:c.3074A>C | ENSP00000262407.5:p.Lys1025Thr | |
ENST00000587295.5:c.267A>C | ||
ENST00000588098.1:c.51A>C | ||
NM_000419.3:c.3074A>C , LRG_479t1:c.3074A>C | NP_000410.2:p.Lys1025Thr | |
XM_011524749.1:c.2972A>C | XP_011523051.1:p.Lys991Thr | |
XM_011524750.1:c.2957A>C | XP_011523052.1:p.Lys986Thr | |
NM_000419.4:c.3074A>C | NP_000410.2:p.Lys1025Thr | |
NM_000419.5:c.3074A>C MANE Select | NP_000410.2:p.Lys1025Thr |