HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612665G>T , CM000679.2:g.41612665G>T | GRCh38 |
NC_000017.10:g.39768917G>T , CM000679.1:g.39768917G>T | GRCh37 |
NC_000017.9:g.37022443G>T | NCBI36 |
NG_008301.1:g.5163C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.24C>A MANE Select | ENSP00000301653.3:p.Phe8Leu | |
ENST00000301653.8:c.24C>A | ENSP00000301653.3:p.Phe8Leu | |
ENST00000588319.1:n.101C>A | ||
ENST00000590990.1:c.24C>A | ENSP00000467105.1:p.Phe8Leu | |
ENST00000593067.1:c.-313+125C>A | ENSP00000467124.1:n.-313+125C>A | |
NM_005557.3:c.24C>A | NP_005548.2:p.Phe8Leu | |
NM_005557.4:c.24C>A MANE Select | NP_005548.2:p.Phe8Leu |