HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14716803C>A , CM000667.2:g.14716803C>A | GRCh38 |
NC_000005.9:g.14716912C>A , CM000667.1:g.14716912C>A | GRCh37 |
NC_000005.8:g.14769912C>A | NCBI36 |
NG_008273.1:g.159976G>T | |
NG_008273.2:g.159983G>T | |
NG_051625.1:g.61010C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.1044G>T MANE Select | ENSP00000284268.6:p.Val348= | |
ENST00000284268.6:c.1044G>T | ENSP00000284268.6:p.Val348= | |
ENST00000502585.1:n.286G>T | ||
NM_054027.4:c.1044G>T | NP_473368.1:p.Val348= | |
NM_054027.5:c.1044G>T | NP_473368.1:p.Val348= | |
XM_017009644.2:c.960G>T | XP_016865133.1:p.Val320= | |
NM_054027.6:c.1044G>T MANE Select | NP_473368.1:p.Val348= |