HGVS | Genome Assembly |
---|---|
NC_000003.12:g.30608587C= , CM000665.2:g.30608587C= | GRCh38 |
NC_000003.11:g.30650079C= , CM000665.1:g.30650079C= | GRCh37 |
NC_000003.10:g.30625083C= | NCBI36 |
NG_007490.1:g.7086C= , LRG_779:g.7086C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295754.10:c.94+1610C= MANE Select | ENSP00000295754.5:n.94+1610C= | |
ENST00000295754.9:c.94+1610C= | ENSP00000295754.5:n.94+1610C= | |
ENST00000359013.4:c.94+1610C= | ENSP00000351905.4:n.94+1610C= | |
NM_001024847.2:c.94+1610C= , LRG_779t1:c.94+1610C= | NP_001020018.1:n.94+1610C= | |
NM_003242.5:c.94+1610C= | NP_003233.4:n.94+1610C= | |
XM_011534045.1:c.-12+1994C= | XP_011532347.1:n.-12+1994C= | |
XM_011534045.3:c.-12+1994C= | XP_011532347.1:n.-12+1994C= | |
NM_003242.6:c.94+1610C= MANE Select | NP_003233.4:n.94+1610C= |