HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14716827G>C , CM000667.2:g.14716827G>C | GRCh38 |
NC_000005.9:g.14716936G>C , CM000667.1:g.14716936G>C | GRCh37 |
NC_000005.8:g.14769936G>C | NCBI36 |
NG_008273.1:g.159952C>G | |
NG_008273.2:g.159959C>G | |
NG_051625.1:g.61034G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.1020C>G MANE Select | ENSP00000284268.6:p.Phe340Leu | |
ENST00000284268.6:c.1020C>G | ENSP00000284268.6:p.Phe340Leu | |
ENST00000502585.1:n.262C>G | ||
NM_054027.4:c.1020C>G | NP_473368.1:p.Phe340Leu | |
NM_054027.5:c.1020C>G | NP_473368.1:p.Phe340Leu | |
XM_017009644.2:c.936C>G | XP_016865133.1:p.Phe312Leu | |
NM_054027.6:c.1020C>G MANE Select | NP_473368.1:p.Phe340Leu |