HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19116834A>T , CM000669.2:g.19116834A>T | GRCh38 |
NC_000007.13:g.19156457A>T , CM000669.1:g.19156457A>T | GRCh37 |
NC_000007.12:g.19122982A>T | NCBI36 |
NG_008114.1:g.5839T>A | |
NG_008114.2:g.5839T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.488T>A MANE Select | ENSP00000242261.5:p.Leu163His | |
ENST00000242261.5:c.488T>A | ENSP00000242261.5:p.Leu163His | |
ENST00000354571.5:c.285T>A | ||
ENST00000443687.5:c.91T>A | ||
NM_000474.3:c.488T>A | NP_000465.1:p.Leu163His | |
XM_011515496.1:c.488T>A | XP_011513798.1:p.Leu163His | |
NR_149001.1:n.839T>A | ||
NM_000474.4:c.488T>A MANE Select | NP_000465.1:p.Leu163His | |
NR_149001.2:n.803T>A |