HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116832831G>A , CM000673.2:g.116832831G>A | GRCh38 |
NC_000011.9:g.116703547G>A , CM000673.1:g.116703547G>A | GRCh37 |
NC_000011.8:g.116208757G>A | NCBI36 |
NG_008949.1:g.7924G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227667.8:c.247G>A MANE Select | ENSP00000227667.2:p.Glu83Lys | |
ENST00000227667.7:c.247G>A | ENSP00000227667.2:p.Glu83Lys | |
ENST00000375345.3:c.301G>A | ENSP00000364494.1:p.Glu101Lys | |
ENST00000630701.1:c.301G>A | ENSP00000486182.1:p.Glu101Lys | |
NM_000040.1:c.247G>A | NP_000031.1:p.Glu83Lys | |
NM_000040.2:c.247G>A | NP_000031.1:p.Glu83Lys | |
NM_000040.3:c.247G>A MANE Select | NP_000031.1:p.Glu83Lys |