HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659370G>T , CM000685.2:g.136659370G>T | GRCh38 |
NC_000023.10:g.135741529G>T , CM000685.1:g.135741529G>T | GRCh37 |
NC_000023.9:g.135569195G>T | NCBI36 |
NG_007280.1:g.16194G>T , LRG_141:g.16194G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*359G>T | ENSP00000512122.1:n.*359G>T | |
ENST00000695725.1:c.*296G>T | ENSP00000512123.1:n.*296G>T | |
ENST00000695726.1:n.2709G>T | ||
ENST00000695729.1:n.3544G>T | ||
ENST00000370629.7:c.741G>T MANE Select | ENSP00000359663.2:p.Val247= | |
ENST00000370628.2:c.678G>T | ENSP00000359662.2:p.Val226= | |
ENST00000370629.6:c.741G>T | ENSP00000359663.2:p.Val247= | |
NM_000074.2:c.741G>T , LRG_141t1:c.741G>T | NP_000065.1:p.Val247= | |
NM_000074.3:c.741G>T MANE Select | NP_000065.1:p.Val247= |