HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21619175G= , CM000669.2:g.21619175G= | GRCh38 |
NC_000007.13:g.21658793G= , CM000669.1:g.21658793G= | GRCh37 |
NC_000007.12:g.21625318G= | NCBI36 |
NG_012886.2:g.80961G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.4330G= MANE Select | ENSP00000475939.1:p.Val1444= | |
ENST00000328843.10:c.4345G= | ENSP00000330671.7:p.Val1449= | |
ENST00000409508.7:c.4330G= | ENSP00000475939.1:p.Val1444= | |
ENST00000465593.1:n.356G= | ||
ENST00000620169.4:c.4345G= | ENSP00000481693.1:p.Val1449= | |
NM_001277115.1:c.4330G= | NP_001264044.1:p.Val1444= | |
NM_001277115.2:c.4330G= MANE Select | NP_001264044.1:p.Val1444= |