HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713442T>G , CM000681.2:g.6713442T>G | GRCh38 |
NC_000019.9:g.6713453T>G , CM000681.1:g.6713453T>G | GRCh37 |
NC_000019.8:g.6664453T>G | NCBI36 |
NG_009557.1:g.12210A>C , LRG_27:g.12210A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.718A>C | ENSP00000512083.1:p.Arg240= | |
ENST00000695692.1:n.165A>C | ||
ENST00000245907.11:c.841A>C MANE Select | ENSP00000245907.4:p.Arg281= | |
ENST00000245907.10:c.841A>C | ENSP00000245907.4:p.Arg281= | |
ENST00000595577.1:n.345A>C | ||
ENST00000597442.5:n.91A>C | ||
NM_000064.3:c.841A>C | NP_000055.2:p.Arg281= | |
NM_000064.4:c.841A>C MANE Select | NP_000055.2:p.Arg281= |