HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73404284G>A , CM000666.2:g.73404284G>A | GRCh38 |
NC_000004.11:g.74270001G>A , CM000666.1:g.74270001G>A | GRCh37 |
NC_000004.10:g.74488865G>A | NCBI36 |
NG_009291.1:g.5030G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295897.8:c.-44G>A | ENSP00000295897.4:n.-44G>A | |
ENST00000441319.5:c.48-85G>A | ENSP00000392541.1:n.48-85G>A | |
ENST00000621628.4:c.-44G>A | ENSP00000480485.1:n.-44G>A | |
NM_000477.5:c.-44G>A | NP_000468.1:n.-44G>A | |
NM_000477.6:c.-44G>A | NP_000468.1:n.-44G>A |