HGVS | Genome Assembly |
---|---|
NC_000007.14:g.150992947C>G , CM000669.2:g.150992947C>G | GRCh38 |
NC_000007.13:g.150690035C>G , CM000669.1:g.150690035C>G | GRCh37 |
NC_000007.12:g.150320968C>G | NCBI36 |
NG_011992.1:g.6889C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297494.8:c.-51-806C>G MANE Select | ENSP00000297494.3:n.-51-806C>G | |
ENST00000297494.7:c.-51-806C>G | ENSP00000297494.3:n.-51-806C>G | |
ENST00000461406.5:c.-149+1647C>G | ENSP00000417143.1:n.-149+1647C>G | |
NM_000603.4:c.-51-806C>G | NP_000594.2:n.-51-806C>G | |
NM_000603.5:c.-51-806C>G MANE Select | NP_000594.2:n.-51-806C>G |