HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19117089G>A , CM000669.2:g.19117089G>A | GRCh38 |
NC_000007.13:g.19156712G>A , CM000669.1:g.19156712G>A | GRCh37 |
NC_000007.12:g.19123237G>A | NCBI36 |
NG_008114.1:g.5584C>T | |
NG_008114.2:g.5584C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.233C>T MANE Select | ENSP00000242261.5:p.Ser78Phe | |
ENST00000242261.5:c.233C>T | ENSP00000242261.5:p.Ser78Phe | |
ENST00000354571.5:c.30C>T | ||
NM_000474.3:c.233C>T | NP_000465.1:p.Ser78Phe | |
XM_011515496.1:c.233C>T | XP_011513798.1:p.Ser78Phe | |
NR_149001.1:n.584C>T | ||
NM_000474.4:c.233C>T MANE Select | NP_000465.1:p.Ser78Phe | |
NR_149001.2:n.548C>T |