HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218882294G>A , CM000664.2:g.218882294G>A | GRCh38 |
NC_000002.11:g.219747016G>A , CM000664.1:g.219747016G>A | GRCh37 |
NC_000002.10:g.219455260G>A | NCBI36 |
NG_012179.1:g.6762G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258411.8:c.247G>A MANE Select | ENSP00000258411.3:p.Ala83Thr | |
ENST00000258411.7:c.247G>A | ENSP00000258411.3:p.Ala83Thr | |
ENST00000458582.1:c.134G>A | ||
NM_025216.2:c.247G>A | NP_079492.2:p.Ala83Thr | |
XM_011511928.1:c.196G>A | XP_011510230.1:p.Ala66Thr | |
XM_011511929.1:c.151G>A | XP_011510231.1:p.Ala51Thr | |
XM_011511930.1:c.247G>A | XP_011510232.1:p.Ala83Thr | |
XM_011511929.2:c.151G>A | XP_011510231.1:p.Ala51Thr | |
NM_025216.3:c.247G>A MANE Select | NP_079492.2:p.Ala83Thr |