HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215867260G= , CM000663.2:g.215867260G= | GRCh38 |
NC_000001.10:g.216040602G= , CM000663.1:g.216040602G= | GRCh37 |
NC_000001.9:g.214107225G= | NCBI36 |
NG_009497.1:g.561137C= | |
NG_009497.2:g.561189C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.8682-90C= MANE Select | ENSP00000305941.3:n.8682-90C= | |
ENST00000674083.1:c.8682-90C= | ENSP00000501296.1:n.8682-90C= | |
ENST00000307340.7:c.8682-90C= | ENSP00000305941.3:n.8682-90C= | |
NM_206933.2:c.8682-90C= | NP_996816.2:n.8682-90C= | |
NM_206933.3:c.8682-90C= | NP_996816.2:n.8682-90C= | |
NM_206933.4:c.8682-90C= MANE Select | NP_996816.3:n.8682-90C= |