HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24259740T>G , CM000676.2:g.24259740T>G | GRCh38 |
NC_000014.8:g.24728946T>G , CM000676.1:g.24728946T>G | GRCh37 |
NC_000014.7:g.23798786T>G | NCBI36 |
NG_007150.1:g.8427A>C | |
NG_007150.2:g.8427A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206765.11:c.948A>C MANE Select | ENSP00000206765.6:p.Gly316= | |
ENST00000206765.10:c.948A>C | ENSP00000206765.6:p.Gly316= | |
ENST00000544573.5:c.-28-1352A>C | ENSP00000439446.1:n.-28-1352A>C | |
ENST00000559136.1:c.21A>C | ENSP00000453337.1:p.Gly7= | |
NM_000359.2:c.948A>C | NP_000350.1:p.Gly316= | |
NM_000359.3:c.948A>C MANE Select | NP_000350.1:p.Gly316= |