HGVS | Genome Assembly |
---|---|
NC_000011.10:g.203013C>T , CM000673.2:g.203013C>T | GRCh38 |
NC_000011.9:g.203013C>T , CM000673.1:g.203013C>T | GRCh37 |
NC_000011.8:g.193013C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382762.8:c.*2289G>A MANE Select | ENSP00000372210.3:n.*2289G>A | |
ENST00000325147.13:c.*2457G>A | ENSP00000339093.7:n.*2457G>A | |
ENST00000382762.7:c.*2289G>A | ENSP00000372210.3:n.*2289G>A | |
ENST00000410108.5:c.168+2598G>A | ENSP00000386558.1:n.168+2598G>A | |
NM_001098787.1:c.*2289G>A | NP_001092257.1:n.*2289G>A | |
NM_016526.4:c.*2457G>A | NP_057610.2:n.*2457G>A | |
NM_001098787.2:c.*2289G>A MANE Select | NP_001092257.1:n.*2289G>A | |
NM_016526.5:c.*2457G>A | NP_057610.2:n.*2457G>A |