HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19117071C>A , CM000669.2:g.19117071C>A | GRCh38 |
NC_000007.13:g.19156694C>A , CM000669.1:g.19156694C>A | GRCh37 |
NC_000007.12:g.19123219C>A | NCBI36 |
NG_008114.1:g.5602G>T | |
NG_008114.2:g.5602G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.251G>T MANE Select | ENSP00000242261.5:p.Gly84Val | |
ENST00000242261.5:c.251G>T | ENSP00000242261.5:p.Gly84Val | |
ENST00000354571.5:c.48G>T | ||
NM_000474.3:c.251G>T | NP_000465.1:p.Gly84Val | |
XM_011515496.1:c.251G>T | XP_011513798.1:p.Gly84Val | |
NR_149001.1:n.602G>T | ||
NM_000474.4:c.251G>T MANE Select | NP_000465.1:p.Gly84Val | |
NR_149001.2:n.566G>T |