HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14716820A>T , CM000667.2:g.14716820A>T | GRCh38 |
NC_000005.9:g.14716929A>T , CM000667.1:g.14716929A>T | GRCh37 |
NC_000005.8:g.14769929A>T | NCBI36 |
NG_008273.1:g.159959T>A | |
NG_008273.2:g.159966T>A | |
NG_051625.1:g.61027A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.1027T>A MANE Select | ENSP00000284268.6:p.Phe343Ile | |
ENST00000284268.6:c.1027T>A | ENSP00000284268.6:p.Phe343Ile | |
ENST00000502585.1:n.269T>A | ||
NM_054027.4:c.1027T>A | NP_473368.1:p.Phe343Ile | |
NM_054027.5:c.1027T>A | NP_473368.1:p.Phe343Ile | |
XM_017009644.2:c.943T>A | XP_016865133.1:p.Phe315Ile | |
NM_054027.6:c.1027T>A MANE Select | NP_473368.1:p.Phe343Ile |