HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86575705G>T , CM000670.2:g.86575705G>T | GRCh38 |
NC_000008.10:g.87587933G>T , CM000670.1:g.87587933G>T | GRCh37 |
NC_000008.9:g.87657049G>T | NCBI36 |
NG_016980.1:g.172971C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320005.6:c.*99C>A MANE Select | ENSP00000316605.5:n.*99C>A | |
ENST00000681546.1:n.2349C>A | ||
ENST00000681746.1:c.*940C>A | ENSP00000505959.1:n.*940C>A | |
ENST00000320005.5:c.*99C>A | ENSP00000316605.5:n.*99C>A | |
ENST00000517327.5:c.276+2984C>A | ENSP00000428329.1:n.276+2984C>A | |
NM_019098.4:c.*99C>A | NP_061971.3:n.*99C>A | |
XM_011517138.1:c.*99C>A | XP_011515440.1:n.*99C>A | |
XM_011517138.2:c.*99C>A | XP_011515440.1:n.*99C>A | |
NM_019098.5:c.*99C>A MANE Select | NP_061971.3:n.*99C>A |