HGVS | Genome Assembly |
---|---|
NC_000011.10:g.202930C>A , CM000673.2:g.202930C>A | GRCh38 |
NC_000011.9:g.202930C>A , CM000673.1:g.202930C>A | GRCh37 |
NC_000011.8:g.192930C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382762.8:c.*2372G>T MANE Select | ENSP00000372210.3:n.*2372G>T | |
ENST00000325147.13:c.*2540G>T | ENSP00000339093.7:n.*2540G>T | |
ENST00000382762.7:c.*2372G>T | ENSP00000372210.3:n.*2372G>T | |
ENST00000410108.5:c.168+2681G>T | ENSP00000386558.1:n.168+2681G>T | |
NM_001098787.1:c.*2372G>T | NP_001092257.1:n.*2372G>T | |
NM_016526.4:c.*2540G>T | NP_057610.2:n.*2540G>T | |
NM_001098787.2:c.*2372G>T MANE Select | NP_001092257.1:n.*2372G>T | |
NM_016526.5:c.*2540G>T | NP_057610.2:n.*2540G>T |