HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154996920T= , CM000685.2:g.154996920T= | GRCh38 |
NC_000023.10:g.154225195T= , CM000685.1:g.154225195T= | GRCh37 |
NC_000023.9:g.153878389T= | NCBI36 |
NG_011403.1:g.30804A= | |
NG_011403.2:g.30804A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.388+53A= MANE Select | ENSP00000353393.4:n.388+53A= | |
ENST00000647125.1:c.*174+53A= | ENSP00000496062.1:n.*174+53A= | |
ENST00000360256.8:c.388+53A= | ENSP00000353393.4:n.388+53A= | |
ENST00000423959.5:c.283+53A= | ENSP00000409446.1:n.283+53A= | |
ENST00000453950.1:c.370+53A= | ENSP00000389153.1:n.370+53A= | |
NM_000132.3:c.388+53A= | NP_000123.1:n.388+53A= | |
XM_011531126.1:c.283+53A= | XP_011529428.1:n.283+53A= | |
NM_000132.4:c.388+53A= MANE Select | NP_000123.1:n.388+53A= |