HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21748589C>A , CM000669.2:g.21748589C>A | GRCh38 |
NC_000007.13:g.21788207C>A , CM000669.1:g.21788207C>A | GRCh37 |
NC_000007.12:g.21754732C>A | NCBI36 |
NG_012886.2:g.210375C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.8520C>A MANE Select | ENSP00000475939.1:p.Ile2840= | |
ENST00000328843.10:c.8541C>A | ENSP00000330671.7:p.Ile2847= | |
ENST00000409508.7:c.8520C>A | ENSP00000475939.1:p.Ile2840= | |
ENST00000620169.4:c.8541C>A | ENSP00000481693.1:p.Ile2847= | |
NM_001277115.1:c.8520C>A | NP_001264044.1:p.Ile2840= | |
NM_001277115.2:c.8520C>A MANE Select | NP_001264044.1:p.Ile2840= |