HGVS | Genome Assembly |
---|---|
NC_000018.10:g.63127841C>T , CM000680.2:g.63127841C>T | GRCh38 |
NC_000018.9:g.60795074C>T , CM000680.1:g.60795074C>T | GRCh37 |
NC_000018.8:g.58946054C>T | NCBI36 |
NG_009361.1:g.196540G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333681.5:c.*784G>A MANE Select | ENSP00000329623.3:n.*784G>A | |
ENST00000677227.1:c.1832G>A | ENSP00000504566.1:n.1832G>A | |
ENST00000677635.1:n.1068G>A | ||
ENST00000678134.1:c.1708G>A | ENSP00000503628.1:n.1708G>A | |
ENST00000678301.1:c.*784G>A | ENSP00000504546.1:n.*784G>A | |
ENST00000678349.1:c.2056G>A | ENSP00000504190.1:n.2056G>A | |
ENST00000333681.4:c.*784G>A | ENSP00000329623.3:n.*784G>A | |
ENST00000398117.1:c.*784G>A | ENSP00000381185.1:n.*784G>A | |
NM_000633.2:c.*784G>A | NP_000624.2:n.*784G>A | |
NM_000633.3:c.*784G>A MANE Select | NP_000624.2:n.*784G>A |