HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24259959C>G , CM000676.2:g.24259959C>G | GRCh38 |
NC_000014.8:g.24729165C>G , CM000676.1:g.24729165C>G | GRCh37 |
NC_000014.7:g.23799005C>G | NCBI36 |
NG_007150.1:g.8208G>C | |
NG_007150.2:g.8208G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000206765.11:c.857G>C MANE Select | ENSP00000206765.6:p.Arg286Pro | |
ENST00000206765.10:c.857G>C | ENSP00000206765.6:p.Arg286Pro | |
ENST00000544573.5:c.-28-1571G>C | ENSP00000439446.1:n.-28-1571G>C | |
ENST00000559136.1:c.-71G>C | ENSP00000453337.1:n.-71G>C | |
NM_000359.2:c.857G>C | NP_000350.1:p.Arg286Pro | |
NM_000359.3:c.857G>C MANE Select | NP_000350.1:p.Arg286Pro |