HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659301C>A , CM000685.2:g.136659301C>A | GRCh38 |
NC_000023.10:g.135741460C>A , CM000685.1:g.135741460C>A | GRCh37 |
NC_000023.9:g.135569126C>A | NCBI36 |
NG_007280.1:g.16125C>A , LRG_141:g.16125C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*290C>A | ENSP00000512122.1:n.*290C>A | |
ENST00000695725.1:c.*227C>A | ENSP00000512123.1:n.*227C>A | |
ENST00000695726.1:n.2640C>A | ||
ENST00000695729.1:n.3475C>A | ||
ENST00000370629.7:c.672C>A MANE Select | ENSP00000359663.2:p.His224Gln | |
ENST00000370628.2:c.609C>A | ENSP00000359662.2:p.His203Gln | |
ENST00000370629.6:c.672C>A | ENSP00000359663.2:p.His224Gln | |
NM_000074.2:c.672C>A , LRG_141t1:c.672C>A | NP_000065.1:p.His224Gln | |
NM_000074.3:c.672C>A MANE Select | NP_000065.1:p.His224Gln |