HGVS | Genome Assembly |
---|---|
NC_000004.12:g.39446916C>A , CM000666.2:g.39446916C>A | GRCh38 |
NC_000004.11:g.39448536C>A , CM000666.1:g.39448536C>A | GRCh37 |
NC_000004.10:g.39124931C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000257408.5:c.2190C>A MANE Select | ENSP00000257408.4:p.Phe730Leu | |
ENST00000257408.4:c.2190C>A | ENSP00000257408.4:p.Phe730Leu | |
NM_175737.3:c.2190C>A | NP_783864.1:p.Phe730Leu | |
XM_005262644.1:c.2163C>A | XP_005262701.1:p.Phe721Leu | |
NM_175737.4:c.2190C>A MANE Select | NP_783864.1:p.Phe730Leu |