HGVS | Genome Assembly |
---|---|
NC_000004.12:g.101794731G>A , CM000666.2:g.101794731G>A | GRCh38 |
NC_000004.11:g.102715888G>A , CM000666.1:g.102715888G>A | GRCh37 |
NC_000004.10:g.102934911G>A | NCBI36 |
NG_015824.1:g.9125G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000322953.9:c.70+3781G>A MANE Select | ENSP00000320509.4:n.70+3781G>A | |
ENST00000322953.8:c.70+3781G>A | ENSP00000320509.4:n.70+3781G>A | |
ENST00000428908.5:c.70+3781G>A | ENSP00000412748.1:n.70+3781G>A | |
ENST00000504592.5:c.26-35077G>A | ENSP00000421443.1:n.26-35077G>A | |
ENST00000508653.5:c.70+3781G>A | ENSP00000422314.1:n.70+3781G>A | |
NM_001127507.2:c.70+3781G>A | NP_001120979.2:n.70+3781G>A | |
NM_017935.4:c.70+3781G>A | NP_060405.4:n.70+3781G>A | |
XM_017008337.2:c.-21+4159G>A | XP_016863826.1:n.-21+4159G>A | |
NM_017935.5:c.70+3781G>A MANE Select | NP_060405.5:n.70+3781G>A | |
NM_001127507.3:c.70+3781G>A | NP_001120979.3:n.70+3781G>A |