HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3795450A= , CM000682.2:g.3795450A= | GRCh38 |
NC_000020.10:g.3776097A= , CM000682.1:g.3776097A= | GRCh37 |
NC_000020.9:g.3724097A= | NCBI36 |
NG_029040.2:g.13679A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344256.10:c.9-2172A= | ENSP00000339125.6:n.9-2172A= | |
ENST00000379598.9:c.9-2172A= | ENSP00000368918.5:n.9-2172A= | |
NM_001287516.1:c.9-2172A= | NP_001274445.1:n.9-2172A= | |
NM_001287517.1:c.9-2214A= | NP_001274446.1:n.9-2214A= | |
NM_001287518.1:c.9-2172A= | NP_001274447.1:n.9-2172A= | |
NR_136336.1:n.369-2172A= | ||
NM_001287516.2:c.9-2172A= | NP_001274445.1:n.9-2172A= | |
NM_001287517.2:c.9-2214A= | NP_001274446.1:n.9-2214A= | |
NM_001287518.2:c.9-2172A= | NP_001274447.1:n.9-2172A= | |
NR_136336.2:n.190-2172A= |