HGVS | Genome Assembly |
---|---|
NC_000003.12:g.30606798C>G , CM000665.2:g.30606798C>G | GRCh38 |
NC_000003.11:g.30648290C>G , CM000665.1:g.30648290C>G | GRCh37 |
NC_000003.10:g.30623294C>G | NCBI36 |
NG_007490.1:g.5297C>G , LRG_779:g.5297C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295754.10:c.-86C>G MANE Select | ENSP00000295754.5:n.-86C>G | |
ENST00000295754.9:c.-86C>G | ENSP00000295754.5:n.-86C>G | |
ENST00000359013.4:c.-86C>G | ENSP00000351905.4:n.-86C>G | |
NM_001024847.2:c.-86C>G , LRG_779t1:c.-86C>G | NP_001020018.1:n.-86C>G | |
NM_003242.5:c.-86C>G | NP_003233.4:n.-86C>G | |
XM_011534045.1:c.-12+205C>G | XP_011532347.1:n.-12+205C>G | |
XM_011534045.3:c.-12+205C>G | XP_011532347.1:n.-12+205C>G | |
NM_003242.6:c.-86C>G MANE Select | NP_003233.4:n.-86C>G |