HGVS | Genome Assembly |
---|---|
NC_000003.12:g.30608623A= , CM000665.2:g.30608623A= | GRCh38 |
NC_000003.11:g.30650115A= , CM000665.1:g.30650115A= | GRCh37 |
NC_000003.10:g.30625119A= | NCBI36 |
NG_007490.1:g.7122A= , LRG_779:g.7122A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295754.10:c.94+1646A= MANE Select | ENSP00000295754.5:n.94+1646A= | |
ENST00000295754.9:c.94+1646A= | ENSP00000295754.5:n.94+1646A= | |
ENST00000359013.4:c.94+1646A= | ENSP00000351905.4:n.94+1646A= | |
NM_001024847.2:c.94+1646A= , LRG_779t1:c.94+1646A= | NP_001020018.1:n.94+1646A= | |
NM_003242.5:c.94+1646A= | NP_003233.4:n.94+1646A= | |
XM_011534045.1:c.-12+2030A= | XP_011532347.1:n.-12+2030A= | |
XM_011534045.3:c.-12+2030A= | XP_011532347.1:n.-12+2030A= | |
NM_003242.6:c.94+1646A= MANE Select | NP_003233.4:n.94+1646A= |