HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14716727A>C , CM000667.2:g.14716727A>C | GRCh38 |
NC_000005.9:g.14716836A>C , CM000667.1:g.14716836A>C | GRCh37 |
NC_000005.8:g.14769836A>C | NCBI36 |
NG_008273.1:g.160052T>G | |
NG_008273.2:g.160059T>G | |
NG_051625.1:g.60934A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.1120T>G MANE Select | ENSP00000284268.6:p.Phe374Val | |
ENST00000284268.6:c.1120T>G | ENSP00000284268.6:p.Phe374Val | |
ENST00000502585.1:n.362T>G | ||
NM_054027.4:c.1120T>G | NP_473368.1:p.Phe374Val | |
NM_054027.5:c.1120T>G | NP_473368.1:p.Phe374Val | |
XM_017009644.2:c.1036T>G | XP_016865133.1:p.Phe346Val | |
NM_054027.6:c.1120T>G MANE Select | NP_473368.1:p.Phe374Val |