HGVS | Genome Assembly |
---|---|
NC_000011.10:g.13492499T>A , CM000673.2:g.13492499T>A | GRCh38 |
NC_000011.9:g.13514046T>A , CM000673.1:g.13514046T>A | GRCh37 |
NC_000011.8:g.13470622T>A | NCBI36 |
NG_008962.1:g.8522A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000282091.6:c.254A>T MANE Select | ENSP00000282091.1:p.Lys85Met | |
ENST00000282091.5:c.254A>T | ENSP00000282091.1:p.Lys85Met | |
ENST00000529816.1:c.254A>T | ENSP00000433208.1:p.Lys85Met | |
NM_000315.2:c.254A>T | NP_000306.1:p.Lys85Met | |
NM_000315.3:c.254A>T | NP_000306.1:p.Lys85Met | |
NM_001316352.1:c.350A>T | NP_001303281.1:p.Lys117Met | |
NM_000315.4:c.254A>T MANE Select | NP_000306.1:p.Lys85Met | |
NM_001316352.2:c.350A>T | NP_001303281.1:p.Lys117Met |