HGVS | Genome Assembly |
---|---|
NC_000001.11:g.77092383G>T , CM000663.2:g.77092383G>T | GRCh38 |
NC_000001.10:g.77558068G>T , CM000663.1:g.77558068G>T | GRCh37 |
NC_000001.9:g.77330656G>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000370812.8:c.1179C>A MANE Select | ENSP00000359848.3:p.Phe393Leu | |
ENST00000370812.7:c.1179C>A | ENSP00000359848.3:p.Phe393Leu | |
ENST00000445065.5:c.897C>A | ENSP00000388854.1:p.Phe299Leu | |
ENST00000487906.5:c.752C>A | ENSP00000474518.1:n.752C>A | |
NM_005482.2:c.1179C>A | NP_005473.1:p.Phe393Leu | |
NM_005482.3:c.1179C>A MANE Select | NP_005473.1:p.Phe393Leu |