HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24259716G>A , CM000676.2:g.24259716G>A | GRCh38 |
NC_000014.8:g.24728922G>A , CM000676.1:g.24728922G>A | GRCh37 |
NC_000014.7:g.23798762G>A | NCBI36 |
NG_007150.1:g.8451C>T | |
NG_007150.2:g.8451C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206765.11:c.972C>T MANE Select | ENSP00000206765.6:p.Val324= | |
ENST00000206765.10:c.972C>T | ENSP00000206765.6:p.Val324= | |
ENST00000544573.5:c.-28-1328C>T | ENSP00000439446.1:n.-28-1328C>T | |
ENST00000559136.1:c.45C>T | ENSP00000453337.1:p.Val15= | |
NM_000359.2:c.972C>T | NP_000350.1:p.Val324= | |
NM_000359.3:c.972C>T MANE Select | NP_000350.1:p.Val324= |