HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232484798C>T , CM000664.2:g.232484798C>T | GRCh38 |
NC_000002.11:g.233349508C>T , CM000664.1:g.233349508C>T | GRCh37 |
NC_000002.10:g.233057752C>T | NCBI36 |
NG_034065.1:g.8062G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304546.6:c.1059+3G>A MANE Select | ENSP00000302051.1:n.1059+3G>A | |
ENST00000304546.5:c.1059+3G>A | ENSP00000302051.1:n.1059+3G>A | |
ENST00000409941.1:c.1059+3G>A | ENSP00000386333.1:n.1059+3G>A | |
ENST00000482346.1:n.1370+3G>A | ||
NM_001290787.1:c.1059+3G>A | NP_001277716.1:n.1059+3G>A | |
NM_004826.3:c.1059+3G>A | NP_004817.2:n.1059+3G>A | |
NM_004826.4:c.1059+3G>A MANE Select | NP_004817.2:n.1059+3G>A | |
NM_001290787.2:c.1059+3G>A | NP_001277716.1:n.1059+3G>A |