HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49459215T>G , CM000668.2:g.49459215T>G | GRCh38 |
NC_000006.11:g.49426928T>G , CM000668.1:g.49426928T>G | GRCh37 |
NC_000006.10:g.49534887T>G | NCBI36 |
NG_007100.1:g.8925A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.252A>C MANE Select | ENSP00000274813.3:p.Glu84Asp | |
ENST00000274813.3:c.252A>C | ENSP00000274813.3:p.Glu84Asp | |
NM_000255.3:c.252A>C | NP_000246.2:p.Glu84Asp | |
XM_005249143.2:c.252A>C | XP_005249200.1:p.Glu84Asp | |
XM_005249143.3:c.252A>C | XP_005249200.1:p.Glu84Asp | |
NM_000255.4:c.252A>C MANE Select | NP_000246.2:p.Glu84Asp |