HGVS | Genome Assembly |
---|---|
NC_000003.12:g.122341437A>G , CM000665.2:g.122341437A>G | GRCh38 |
NC_000003.11:g.122060284A>G , CM000665.1:g.122060284A>G | GRCh37 |
NC_000003.10:g.123542974A>G | NCBI36 |
NG_027995.1:g.21274A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264474.4:c.169-2A>G MANE Select | ENSP00000264474.3:n.169-2A>G | |
ENST00000264474.3:c.169-2A>G | ENSP00000264474.3:n.169-2A>G | |
NM_005213.3:c.169-2A>G | NP_005204.1:n.169-2A>G | |
NM_005213.4:c.169-2A>G MANE Select | NP_005204.1:n.169-2A>G |