HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47332196G>A , CM000673.2:g.47332196G>A | GRCh38 |
NC_000011.9:g.47353747G>A , CM000673.1:g.47353747G>A | GRCh37 |
NC_000011.8:g.47310323G>A | NCBI36 |
NG_007667.1:g.25507C>T , LRG_386:g.25507C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000545968.6:c.3690C>T MANE Select | ENSP00000442795.1:p.Phe1230= | |
ENST00000256993.8:c.3690C>T | ENSP00000256993.5:p.Phe1230= | |
ENST00000399249.6:c.3690C>T | ENSP00000382193.2:p.Phe1230= | |
ENST00000545968.5:c.3690C>T | ENSP00000442795.1:p.Phe1230= | |
NM_000256.3:c.3690C>T , LRG_386t1:c.3690C>T MANE Select | NP_000247.2:p.Phe1230= | |
XM_011520117.1:c.3672C>T | XP_011518419.1:p.Phe1224= | |
XM_011520118.1:c.3609C>T | XP_011518420.1:p.Phe1203= |