HGVS | Genome Assembly |
---|---|
NC_000003.12:g.30606817C>A , CM000665.2:g.30606817C>A | GRCh38 |
NC_000003.11:g.30648309C>A , CM000665.1:g.30648309C>A | GRCh37 |
NC_000003.10:g.30623313C>A | NCBI36 |
NG_007490.1:g.5316C>A , LRG_779:g.5316C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295754.10:c.-67C>A MANE Select | ENSP00000295754.5:n.-67C>A | |
ENST00000295754.9:c.-67C>A | ENSP00000295754.5:n.-67C>A | |
ENST00000359013.4:c.-67C>A | ENSP00000351905.4:n.-67C>A | |
NM_001024847.2:c.-67C>A , LRG_779t1:c.-67C>A | NP_001020018.1:n.-67C>A | |
NM_003242.5:c.-67C>A | NP_003233.4:n.-67C>A | |
XM_011534045.1:c.-12+224C>A | XP_011532347.1:n.-12+224C>A | |
XM_011534045.3:c.-12+224C>A | XP_011532347.1:n.-12+224C>A | |
NM_003242.6:c.-67C>A MANE Select | NP_003233.4:n.-67C>A |