HGVS | Genome Assembly |
---|---|
NC_000011.10:g.46725901G>C , CM000673.2:g.46725901G>C | GRCh38 |
NC_000011.9:g.46747451G>C , CM000673.1:g.46747451G>C | GRCh37 |
NC_000011.8:g.46704027G>C | NCBI36 |
NG_008953.1:g.11709G>C , LRG_551:g.11709G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311907.10:c.602G>C MANE Select | ENSP00000308541.5:p.Gly201Ala | |
ENST00000311907.9:c.602G>C | ENSP00000308541.5:p.Gly201Ala | |
ENST00000442468.1:c.572G>C | ENSP00000387413.1:p.Gly191Ala | |
ENST00000490274.1:n.382G>C | ||
ENST00000530231.5:c.602G>C | ENSP00000433907.1:p.Gly201Ala | |
NM_000506.3:c.602G>C | NP_000497.1:p.Gly201Ala | |
NM_000506.4:c.602G>C , LRG_551t1:c.602G>C | NP_000497.1:p.Gly201Ala | |
NM_001311257.1:c.554G>C | NP_001298186.1:p.Gly185Ala | |
XR_428840.2:n.646G>C | ||
XR_428840.4:n.637G>C | ||
NM_000506.5:c.602G>C MANE Select | NP_000497.1:p.Gly201Ala | |
NM_001311257.2:c.554G>C | NP_001298186.1:p.Gly185Ala |