HGVS | Genome Assembly |
---|---|
NC_000002.12:g.229657682G>C , CM000664.2:g.229657682G>C | GRCh38 |
NC_000002.11:g.230522398G>C , CM000664.1:g.230522398G>C | GRCh37 |
NC_000002.10:g.230230642G>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000341772.5:c.276+56466C>G MANE Select | ENSP00000345229.4:n.276+56466C>G | |
ENST00000341772.4:c.276+56466C>G | ENSP00000345229.4:n.276+56466C>G | |
NM_139072.3:c.276+56466C>G | NP_620711.3:n.276+56466C>G | |
XM_005246950.2:c.276+56466C>G | XP_005247007.1:n.276+56466C>G | |
XM_005246950.3:c.276+56466C>G | XP_005247007.1:n.276+56466C>G | |
NM_139072.4:c.276+56466C>G MANE Select | NP_620711.3:n.276+56466C>G |