HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14716819A>C , CM000667.2:g.14716819A>C | GRCh38 |
NC_000005.9:g.14716928A>C , CM000667.1:g.14716928A>C | GRCh37 |
NC_000005.8:g.14769928A>C | NCBI36 |
NG_008273.1:g.159960T>G | |
NG_008273.2:g.159967T>G | |
NG_051625.1:g.61026A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.1028T>G MANE Select | ENSP00000284268.6:p.Phe343Cys | |
ENST00000284268.6:c.1028T>G | ENSP00000284268.6:p.Phe343Cys | |
ENST00000502585.1:n.270T>G | ||
NM_054027.4:c.1028T>G | NP_473368.1:p.Phe343Cys | |
NM_054027.5:c.1028T>G | NP_473368.1:p.Phe343Cys | |
XM_017009644.2:c.944T>G | XP_016865133.1:p.Phe315Cys | |
NM_054027.6:c.1028T>G MANE Select | NP_473368.1:p.Phe343Cys |