HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10645438G>T , CM000682.2:g.10645438G>T | GRCh38 |
NC_000020.10:g.10626086G>T , CM000682.1:g.10626086G>T | GRCh37 |
NC_000020.9:g.10574086G>T | NCBI36 |
NG_007496.1:g.33609C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000254958.10:c.2031C>A MANE Select | ENSP00000254958.4:p.His677Gln | |
ENST00000617965.2:n.2620C>A | ||
ENST00000254958.9:c.2031C>A | ENSP00000254958.4:p.His677Gln | |
ENST00000423891.6:n.1897C>A | ||
ENST00000488480.2:n.428C>A | ||
ENST00000612857.1:n.520C>A | ||
NM_000214.2:c.2031C>A | NP_000205.1:p.His677Gln | |
NM_000214.3:c.2031C>A MANE Select | NP_000205.1:p.His677Gln |