HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232484872C>G , CM000664.2:g.232484872C>G | GRCh38 |
NC_000002.11:g.233349582C>G , CM000664.1:g.233349582C>G | GRCh37 |
NC_000002.10:g.233057826C>G | NCBI36 |
NG_034065.1:g.7988G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304546.6:c.988G>C MANE Select | ENSP00000302051.1:p.Asp330His | |
ENST00000304546.5:c.988G>C | ENSP00000302051.1:p.Asp330His | |
ENST00000409941.1:c.988G>C | ENSP00000386333.1:p.Asp330His | |
ENST00000482346.1:n.1299G>C | ||
NM_001290787.1:c.988G>C | NP_001277716.1:p.Asp330His | |
NM_004826.3:c.988G>C | NP_004817.2:p.Asp330His | |
NM_004826.4:c.988G>C MANE Select | NP_004817.2:p.Asp330His | |
NM_001290787.2:c.988G>C | NP_001277716.1:p.Asp330His |