HGVS | Genome Assembly |
---|---|
NC_000004.12:g.101829785G>A , CM000666.2:g.101829785G>A | GRCh38 |
NC_000004.11:g.102750942G>A , CM000666.1:g.102750942G>A | GRCh37 |
NC_000004.10:g.102969965G>A | NCBI36 |
NG_015824.1:g.44179G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000322953.9:c.71-23G>A MANE Select | ENSP00000320509.4:n.71-23G>A | |
ENST00000322953.8:c.71-23G>A | ENSP00000320509.4:n.71-23G>A | |
ENST00000428908.5:c.71-25250G>A | ENSP00000412748.1:n.71-25250G>A | |
ENST00000444316.2:c.-20-23G>A | ENSP00000388817.2:n.-20-23G>A | |
ENST00000504592.5:c.26-23G>A | ENSP00000421443.1:n.26-23G>A | |
ENST00000508653.5:c.71-25250G>A | ENSP00000422314.1:n.71-25250G>A | |
NM_001083907.2:c.-20-23G>A | NP_001077376.2:n.-20-23G>A | |
NM_001127507.2:c.71-25250G>A | NP_001120979.2:n.71-25250G>A | |
NM_017935.4:c.71-23G>A | NP_060405.4:n.71-23G>A | |
XM_017008337.2:c.-20-23G>A | XP_016863826.1:n.-20-23G>A | |
NM_017935.5:c.71-23G>A MANE Select | NP_060405.5:n.71-23G>A | |
NM_001083907.3:c.-20-23G>A | NP_001077376.3:n.-20-23G>A | |
NM_001127507.3:c.71-25250G>A | NP_001120979.3:n.71-25250G>A |