HGVS | Genome Assembly |
---|---|
NC_000004.12:g.39446915T>G , CM000666.2:g.39446915T>G | GRCh38 |
NC_000004.11:g.39448535T>G , CM000666.1:g.39448535T>G | GRCh37 |
NC_000004.10:g.39124930T>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000257408.5:c.2189T>G MANE Select | ENSP00000257408.4:p.Phe730Cys | |
ENST00000257408.4:c.2189T>G | ENSP00000257408.4:p.Phe730Cys | |
NM_175737.3:c.2189T>G | NP_783864.1:p.Phe730Cys | |
XM_005262644.1:c.2162T>G | XP_005262701.1:p.Phe721Cys | |
NM_175737.4:c.2189T>G MANE Select | NP_783864.1:p.Phe730Cys |