HGVS | Genome Assembly |
---|---|
NC_000003.12:g.30606758C>G , CM000665.2:g.30606758C>G | GRCh38 |
NC_000003.11:g.30648250C>G , CM000665.1:g.30648250C>G | GRCh37 |
NC_000003.10:g.30623254C>G | NCBI36 |
NG_007490.1:g.5257C>G , LRG_779:g.5257C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295754.10:c.-126C>G MANE Select | ENSP00000295754.5:n.-126C>G | |
ENST00000295754.9:c.-126C>G | ENSP00000295754.5:n.-126C>G | |
ENST00000359013.4:c.-126C>G | ENSP00000351905.4:n.-126C>G | |
NM_001024847.2:c.-126C>G , LRG_779t1:c.-126C>G | NP_001020018.1:n.-126C>G | |
NM_003242.5:c.-126C>G | NP_003233.4:n.-126C>G | |
XM_011534045.1:c.-12+165C>G | XP_011532347.1:n.-12+165C>G | |
XM_011534045.3:c.-12+165C>G | XP_011532347.1:n.-12+165C>G | |
NM_003242.6:c.-126C>G MANE Select | NP_003233.4:n.-126C>G |