HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48045802G>A , CM000675.2:g.48045802G>A | GRCh38 |
NC_000013.10:g.48619938G>A , CM000675.1:g.48619938G>A | GRCh37 |
NC_000013.9:g.47517939G>A | NCBI36 |
NG_047021.1:g.13236G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258662.3:c.*3G>A MANE Select | ENSP00000258662.1:n.*3G>A | |
ENST00000258662.2:c.*3G>A | ENSP00000258662.1:n.*3G>A | |
NM_018283.2:c.*3G>A | NP_060753.1:n.*3G>A | |
NM_018283.3:c.*3G>A | NP_060753.1:n.*3G>A | |
NR_136687.1:n.678G>A | ||
NR_136688.1:n.675+3G>A | ||
NM_018283.4:c.*3G>A MANE Select | NP_060753.1:n.*3G>A | |
NR_136687.2:n.519G>A | ||
NR_136688.2:n.516+3G>A |