HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14716805C>G , CM000667.2:g.14716805C>G | GRCh38 |
NC_000005.9:g.14716914C>G , CM000667.1:g.14716914C>G | GRCh37 |
NC_000005.8:g.14769914C>G | NCBI36 |
NG_008273.1:g.159974G>C | |
NG_008273.2:g.159981G>C | |
NG_051625.1:g.61012C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.1042G>C MANE Select | ENSP00000284268.6:p.Val348Leu | |
ENST00000284268.6:c.1042G>C | ENSP00000284268.6:p.Val348Leu | |
ENST00000502585.1:n.284G>C | ||
NM_054027.4:c.1042G>C | NP_473368.1:p.Val348Leu | |
NM_054027.5:c.1042G>C | NP_473368.1:p.Val348Leu | |
XM_017009644.2:c.958G>C | XP_016865133.1:p.Val320Leu | |
NM_054027.6:c.1042G>C MANE Select | NP_473368.1:p.Val348Leu |