HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218893377G>A , CM000664.2:g.218893377G>A | GRCh38 |
NC_000002.11:g.219758099G>A , CM000664.1:g.219758099G>A | GRCh37 |
NC_000002.10:g.219466343G>A | NCBI36 |
NG_012179.1:g.17845G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258411.8:c.*106G>A MANE Select | ENSP00000258411.3:n.*106G>A | |
ENST00000258411.7:c.*106G>A | ENSP00000258411.3:n.*106G>A | |
ENST00000489887.1:n.47+110G>A | ||
NM_025216.2:c.*106G>A | NP_079492.2:n.*106G>A | |
XM_011511928.1:c.*106G>A | XP_011510230.1:n.*106G>A | |
XM_011511929.1:c.*106G>A | XP_011510231.1:n.*106G>A | |
XM_011511930.1:c.*80G>A | XP_011510232.1:n.*80G>A | |
XM_011511929.2:c.*106G>A | XP_011510231.1:n.*106G>A | |
NM_025216.3:c.*106G>A MANE Select | NP_079492.2:n.*106G>A |