HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91272733G>T , CM000676.2:g.91272733G>T | GRCh38 |
NC_000014.8:g.91739077G>T , CM000676.1:g.91739077G>T | GRCh37 |
NC_000014.7:g.90808830G>T | NCBI36 |
NG_033118.1:g.150112C>A | |
NG_033118.2:g.150112C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.5979C>A MANE Select | ENSP00000374507.6:p.Gly1993= | |
ENST00000331194.8:c.1413C>A | ENSP00000330332.8:p.Gly471= | |
ENST00000389857.10:c.5979C>A | ENSP00000374507.6:p.Gly1993= | |
ENST00000556726.5:c.2207C>A | ||
NM_001080414.3:c.5979C>A | NP_001073883.2:p.Gly1993= | |
XM_011536796.1:c.5871C>A | XP_011535098.1:p.Gly1957= | |
XM_011536796.2:c.5871C>A | XP_011535098.1:p.Gly1957= | |
XM_017021336.1:c.3060C>A | XP_016876825.1:p.Gly1020= | |
NM_001080414.4:c.5979C>A MANE Select | NP_001073883.2:p.Gly1993= |