HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232484780C>A , CM000664.2:g.232484780C>A | GRCh38 |
NC_000002.11:g.233349490C>A , CM000664.1:g.233349490C>A | GRCh37 |
NC_000002.10:g.233057734C>A | NCBI36 |
NG_034065.1:g.8080G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304546.6:c.1059+21G>T MANE Select | ENSP00000302051.1:n.1059+21G>T | |
ENST00000304546.5:c.1059+21G>T | ENSP00000302051.1:n.1059+21G>T | |
ENST00000409941.1:c.1059+21G>T | ENSP00000386333.1:n.1059+21G>T | |
ENST00000482346.1:n.1370+21G>T | ||
NM_001290787.1:c.1059+21G>T | NP_001277716.1:n.1059+21G>T | |
NM_004826.3:c.1059+21G>T | NP_004817.2:n.1059+21G>T | |
NM_004826.4:c.1059+21G>T MANE Select | NP_004817.2:n.1059+21G>T | |
NM_001290787.2:c.1059+21G>T | NP_001277716.1:n.1059+21G>T |