HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72124112G= , CM000679.2:g.72124112G= | GRCh38 |
NC_000017.10:g.70120253G= , CM000679.1:g.70120253G= | GRCh37 |
NC_000017.9:g.67631848G= | NCBI36 |
NG_012490.1:g.8093G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.1255G= MANE Select | ENSP00000245479.2:p.Ala419= | |
ENST00000245479.2:c.1255G= | ENSP00000245479.2:p.Ala419= | |
NM_000346.3:c.1255G= | NP_000337.1:p.Ala419= | |
NM_000346.4:c.1255G= MANE Select | NP_000337.1:p.Ala419= |