HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10645429G>A , CM000682.2:g.10645429G>A | GRCh38 |
NC_000020.10:g.10626077G>A , CM000682.1:g.10626077G>A | GRCh37 |
NC_000020.9:g.10574077G>A | NCBI36 |
NG_007496.1:g.33618C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000254958.10:c.2040C>T MANE Select | ENSP00000254958.4:p.Gly680= | |
ENST00000617965.2:n.2629C>T | ||
ENST00000254958.9:c.2040C>T | ENSP00000254958.4:p.Gly680= | |
ENST00000423891.6:n.1906C>T | ||
ENST00000488480.2:n.437C>T | ||
ENST00000612857.1:n.529C>T | ||
NM_000214.2:c.2040C>T | NP_000205.1:p.Gly680= | |
NM_000214.3:c.2040C>T MANE Select | NP_000205.1:p.Gly680= |