HGVS | Genome Assembly |
---|---|
NC_000017.11:g.29477754G>A , CM000679.2:g.29477754G>A | GRCh38 |
NC_000017.10:g.27804772G>A , CM000679.1:g.27804772G>A | GRCh37 |
NC_000017.9:g.24828898G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261716.8:c.352+48G>A MANE Select | ENSP00000261716.3:n.352+48G>A | |
ENST00000261716.7:c.352+48G>A | ENSP00000261716.3:n.352+48G>A | |
ENST00000536202.1:c.352+48G>A | ENSP00000438819.1:n.352+48G>A | |
NM_020791.2:c.352+48G>A | NP_065842.1:n.352+48G>A | |
NM_025142.1:c.352+48G>A | NP_079418.1:n.352+48G>A | |
XM_011525060.1:c.352+48G>A | XP_011523362.1:n.352+48G>A | |
XM_011525060.2:c.352+48G>A | XP_011523362.1:n.352+48G>A | |
NM_020791.4:c.352+48G>A MANE Select | NP_065842.1:n.352+48G>A |