HGVS | Genome Assembly |
---|---|
NC_000008.11:g.18393738C>G , CM000670.2:g.18393738C>G | GRCh38 |
NC_000008.10:g.18251248C>G , CM000670.1:g.18251248C>G | GRCh37 |
NC_000008.9:g.18295528C>G | NCBI36 |
NG_012246.1:g.7494C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286479.4:c.-7+2393C>G MANE Select | ENSP00000286479.3:n.-7+2393C>G | |
ENST00000286479.3:c.-7+2393C>G | ENSP00000286479.3:n.-7+2393C>G | |
ENST00000520116.1:c.-58+2393C>G | ENSP00000428416.1:n.-58+2393C>G | |
NM_000015.2:c.-7+2393C>G | NP_000006.2:n.-7+2393C>G | |
XM_011544358.1:c.-7+1002C>G | XP_011542660.1:n.-7+1002C>G | |
XM_017012938.1:c.-6-6260C>G | XP_016868427.1:n.-6-6260C>G | |
NM_000015.3:c.-7+2393C>G MANE Select | NP_000006.2:n.-7+2393C>G |