HGVS | Genome Assembly |
---|---|
NC_000003.12:g.30606902A>T , CM000665.2:g.30606902A>T | GRCh38 |
NC_000003.11:g.30648394A>T , CM000665.1:g.30648394A>T | GRCh37 |
NC_000003.10:g.30623398A>T | NCBI36 |
NG_007490.1:g.5401A>T , LRG_779:g.5401A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295754.10:c.19A>T MANE Select | ENSP00000295754.5:p.Arg7Trp | |
ENST00000295754.9:c.19A>T | ENSP00000295754.5:p.Arg7Trp | |
ENST00000359013.4:c.19A>T | ENSP00000351905.4:p.Arg7Trp | |
NM_001024847.2:c.19A>T , LRG_779t1:c.19A>T | NP_001020018.1:p.Arg7Trp | |
NM_003242.5:c.19A>T | NP_003233.4:p.Arg7Trp | |
XM_011534045.1:c.-12+309A>T | XP_011532347.1:n.-12+309A>T | |
XM_011534045.3:c.-12+309A>T | XP_011532347.1:n.-12+309A>T | |
NM_003242.6:c.19A>T MANE Select | NP_003233.4:p.Arg7Trp |