HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659375A>G , CM000685.2:g.136659375A>G | GRCh38 |
NC_000023.10:g.135741534A>G , CM000685.1:g.135741534A>G | GRCh37 |
NC_000023.9:g.135569200A>G | NCBI36 |
NG_007280.1:g.16199A>G , LRG_141:g.16199A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*364A>G | ENSP00000512122.1:n.*364A>G | |
ENST00000695725.1:c.*301A>G | ENSP00000512123.1:n.*301A>G | |
ENST00000695726.1:n.2714A>G | ||
ENST00000695729.1:n.3549A>G | ||
ENST00000370629.7:c.746A>G MANE Select | ENSP00000359663.2:p.His249Arg | |
ENST00000370628.2:c.683A>G | ENSP00000359662.2:p.His228Arg | |
ENST00000370629.6:c.746A>G | ENSP00000359663.2:p.His249Arg | |
NM_000074.2:c.746A>G , LRG_141t1:c.746A>G | NP_000065.1:p.His249Arg | |
NM_000074.3:c.746A>G MANE Select | NP_000065.1:p.His249Arg |