HGVS | Genome Assembly |
---|---|
NC_000019.10:g.50820217C>T , CM000681.2:g.50820217C>T | GRCh38 |
NC_000019.9:g.51323473C>T , CM000681.1:g.51323473C>T | GRCh37 |
NC_000019.8:g.56015285C>T | NCBI36 |
NG_012094.1:g.8571G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301420.3:c.433G>A MANE Select | ENSP00000301420.1:p.Glu145Lys | |
ENST00000301420.2:c.433G>A | ENSP00000301420.1:p.Glu145Lys | |
ENST00000593325.5:c.*1242G>A | ENSP00000472939.1:n.*1242G>A | |
ENST00000593859.5:n.472G>A | ||
ENST00000596300.1:n.633G>A | ||
NM_002257.3:c.433G>A | NP_002248.1:p.Glu145Lys | |
XM_011526942.1:c.127G>A | XP_011525244.1:p.Glu43Lys | |
NM_002257.4:c.433G>A MANE Select | NP_002248.1:p.Glu145Lys |