HGVS | Genome Assembly |
---|---|
NC_000020.11:g.61928269C>A , CM000682.2:g.61928269C>A | GRCh38 |
NC_000020.10:g.60503327C>A , CM000682.1:g.60503327C>A | GRCh37 |
NC_000020.9:g.59936722C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614565.5:c.1851C>A MANE Select | ENSP00000484928.1:p.Pro617= | |
ENST00000543233.2:c.1629C>A | ENSP00000443301.1:p.Pro543= | |
ENST00000611855.4:c.1569C>A | ENSP00000480844.1:p.Pro523= | |
ENST00000614565.4:c.1851C>A | ENSP00000484928.1:p.Pro617= | |
NM_001252338.2:c.1740C>A | NP_001239267.1:p.Pro580= | |
NM_001252339.2:c.1629C>A | NP_001239268.1:p.Pro543= | |
NM_001794.4:c.1851C>A | NP_001785.2:p.Pro617= | |
NM_001794.5:c.1851C>A MANE Select | NP_001785.2:p.Pro617= | |
NM_001252339.3:c.1629C>A | NP_001239268.1:p.Pro543= |