HGVS | Genome Assembly |
---|---|
NC_000014.9:g.94614466G>C , CM000676.2:g.94614466G>C | GRCh38 |
NC_000014.8:g.95080803G>C , CM000676.1:g.95080803G>C | GRCh37 |
NC_000014.7:g.94150556G>C | NCBI36 |
NG_012879.1:g.7090G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393078.5:c.25G>C MANE Select | ENSP00000376793.3:p.Ala9Pro | |
ENST00000393078.4:c.25G>C | ENSP00000376793.3:p.Ala9Pro | |
ENST00000393080.8:c.25G>C | ENSP00000376795.4:p.Ala9Pro | |
ENST00000467132.5:c.25G>C | ENSP00000450540.1:p.Ala9Pro | |
ENST00000553947.1:c.988G>C | ||
ENST00000555820.1:c.25G>C | ENSP00000452246.3:p.Ala9Pro | |
ENST00000556388.1:n.57+2019G>C | ||
ENST00000556968.2:c.25G>C | ENSP00000452476.1:p.Ala9Pro | |
NM_001085.4:c.25G>C | NP_001076.2:p.Ala9Pro | |
NM_001085.5:c.25G>C MANE Select | NP_001076.2:p.Ala9Pro | |
NM_001384672.1:c.25G>C | NP_001371601.1:p.Ala9Pro | |
NM_001384673.1:c.25G>C | NP_001371602.1:p.Ala9Pro | |
NM_001384674.1:c.25G>C | NP_001371603.1:p.Ala9Pro |