HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14716818A>G , CM000667.2:g.14716818A>G | GRCh38 |
NC_000005.9:g.14716927A>G , CM000667.1:g.14716927A>G | GRCh37 |
NC_000005.8:g.14769927A>G | NCBI36 |
NG_008273.1:g.159961T>C | |
NG_008273.2:g.159968T>C | |
NG_051625.1:g.61025A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.1029T>C MANE Select | ENSP00000284268.6:p.Phe343= | |
ENST00000284268.6:c.1029T>C | ENSP00000284268.6:p.Phe343= | |
ENST00000502585.1:n.271T>C | ||
NM_054027.4:c.1029T>C | NP_473368.1:p.Phe343= | |
NM_054027.5:c.1029T>C | NP_473368.1:p.Phe343= | |
XM_017009644.2:c.945T>C | XP_016865133.1:p.Phe315= | |
NM_054027.6:c.1029T>C MANE Select | NP_473368.1:p.Phe343= |