HGVS | Genome Assembly |
---|---|
NC_000007.14:g.1234071A>G , CM000669.2:g.1234071A>G | GRCh38 |
NC_000007.13:g.1273707A>G , CM000669.1:g.1273707A>G | GRCh37 |
NC_000007.12:g.1240233A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000316333.9:c.450+376A>G MANE Select | ENSP00000314480.8:n.450+376A>G | |
ENST00000316333.8:c.450+376A>G | ENSP00000314480.8:n.450+376A>G | |
NM_001080461.1:c.450+376A>G | NP_001073930.1:n.450+376A>G | |
NM_001080461.2:c.450+376A>G | NP_001073930.1:n.450+376A>G | |
NM_001080461.3:c.450+376A>G MANE Select | NP_001073930.1:n.450+376A>G |