HGVS | Genome Assembly |
---|---|
NC_000016.10:g.55823661C>T , CM000678.2:g.55823661C>T | GRCh38 |
NC_000016.9:g.55857573C>T , CM000678.1:g.55857573C>T | GRCh37 |
NC_000016.8:g.54415074C>T | NCBI36 |
NG_012057.1:g.14503G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360526.8:c.428G>A MANE Select | ENSP00000353720.4:p.Gly143Glu | |
ENST00000360526.7:c.428G>A | ENSP00000353720.3:p.Gly143Glu | |
ENST00000361503.8:c.425G>A | ENSP00000355193.4:p.Gly142Glu | |
ENST00000422046.6:c.425G>A | ENSP00000390492.2:p.Gly142Glu | |
ENST00000563005.5:n.261G>A | ||
ENST00000565403.5:n.124G>A | ||
ENST00000566555.1:n.455G>A | ||
NM_001025194.1:c.425G>A | NP_001020365.1:p.Gly142Glu | |
NM_001025195.1:c.428G>A | NP_001020366.1:p.Gly143Glu | |
NM_001266.4:c.425G>A | NP_001257.4:p.Gly142Glu | |
XM_005255774.1:c.428G>A | XP_005255831.1:p.Gly143Glu | |
XM_011522816.1:c.428G>A | XP_011521118.1:p.Gly143Glu | |
XM_005255774.2:c.428G>A | XP_005255831.1:p.Gly143Glu | |
NM_001025194.2:c.425G>A | NP_001020365.1:p.Gly142Glu | |
NM_001025195.2:c.428G>A MANE Select | NP_001020366.1:p.Gly143Glu | |
NM_001266.5:c.425G>A | NP_001257.4:p.Gly142Glu |