HGVS | Genome Assembly |
---|---|
NC_000003.12:g.30606897T>A , CM000665.2:g.30606897T>A | GRCh38 |
NC_000003.11:g.30648389T>A , CM000665.1:g.30648389T>A | GRCh37 |
NC_000003.10:g.30623393T>A | NCBI36 |
NG_007490.1:g.5396T>A , LRG_779:g.5396T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295754.10:c.14T>A MANE Select | ENSP00000295754.5:p.Leu5Gln | |
ENST00000295754.9:c.14T>A | ENSP00000295754.5:p.Leu5Gln | |
ENST00000359013.4:c.14T>A | ENSP00000351905.4:p.Leu5Gln | |
NM_001024847.2:c.14T>A , LRG_779t1:c.14T>A | NP_001020018.1:p.Leu5Gln | |
NM_003242.5:c.14T>A | NP_003233.4:p.Leu5Gln | |
XM_011534045.1:c.-12+304T>A | XP_011532347.1:n.-12+304T>A | |
XM_011534045.3:c.-12+304T>A | XP_011532347.1:n.-12+304T>A | |
NM_003242.6:c.14T>A MANE Select | NP_003233.4:p.Leu5Gln |