HGVS | Genome Assembly |
---|---|
NC_000013.11:g.46896078G= , CM000675.2:g.46896078G= | GRCh38 |
NC_000013.10:g.47470213G= , CM000675.1:g.47470213G= | GRCh37 |
NC_000013.9:g.46368214G= | NCBI36 |
NG_013011.1:g.5957C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000542664.4:c.-172C= MANE Select | ENSP00000437737.1:n.-172C= | |
ENST00000543956.5:c.-78+596C= | ENSP00000441861.2:n.-78+596C= | |
ENST00000542664.3:c.-172C= | ENSP00000437737.1:n.-172C= | |
ENST00000543956.4:c.160+596C= | ENSP00000441861.1:n.160+596C= | |
NM_000621.4:c.-172C= | NP_000612.1:n.-172C= | |
NM_001165947.2:c.160+596C= | NP_001159419.1:n.160+596C= | |
NM_000621.5:c.-172C= MANE Select | NP_000612.1:n.-172C= | |
NM_001165947.5:c.-78+596C= | NP_001159419.2:n.-78+596C= | |
NM_001378924.1:c.-172C= | NP_001365853.1:n.-172C= |