HGVS | Genome Assembly |
---|---|
NC_000008.11:g.37966247A>T , CM000670.2:g.37966247A>T | GRCh38 |
NC_000008.10:g.37823765A>T , CM000670.1:g.37823765A>T | GRCh37 |
NC_000008.9:g.37942922A>T | NCBI36 |
NG_011936.1:g.5420T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000345060.5:c.223T>A MANE Select | ENSP00000343782.3:p.Phe75Ile | |
ENST00000520341.2:n.351T>A | ||
ENST00000345060.4:c.223T>A | ENSP00000343782.3:p.Phe75Ile | |
ENST00000614635.1:c.223T>A | ENSP00000480325.1:p.Phe75Ile | |
NM_000025.2:c.223T>A | NP_000016.1:p.Phe75Ile | |
NM_000025.3:c.223T>A MANE Select | NP_000016.1:p.Phe75Ile |