HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52488317C>T , CM000674.2:g.52488317C>T | GRCh38 |
NC_000012.11:g.52882101C>T , CM000674.1:g.52882101C>T | GRCh37 |
NC_000012.10:g.51168368C>T | NCBI36 |
NG_008298.1:g.10081G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330722.7:c.1424+11G>A MANE Select | ENSP00000369317.3:n.1424+11G>A | |
ENST00000330722.6:c.1424+11G>A | ENSP00000369317.3:n.1424+11G>A | |
NM_005554.3:c.1424+11G>A | NP_005545.1:n.1424+11G>A | |
NM_005554.4:c.1424+11G>A MANE Select | NP_005545.1:n.1424+11G>A |