HGVS | Genome Assembly |
---|---|
NC_000007.14:g.155461249A>G , CM000669.2:g.155461249A>G | GRCh38 |
NC_000007.13:g.155253944A>G , CM000669.1:g.155253944A>G | GRCh37 |
NC_000007.12:g.154946705A>G | NCBI36 |
NG_007124.1:g.9530A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297375.4:c.686-1122A>G MANE Select | ENSP00000297375.4:n.686-1122A>G | |
NM_001427.3:c.686-1122A>G | NP_001418.2:n.686-1122A>G | |
NM_001427.4:c.686-1122A>G MANE Select | NP_001418.2:n.686-1122A>G |