HGVS | Genome Assembly |
---|---|
NC_000011.10:g.117994131A>C , CM000673.2:g.117994131A>C | GRCh38 |
NC_000011.9:g.117864846A>C , CM000673.1:g.117864846A>C | GRCh37 |
NC_000011.8:g.117370056A>C | NCBI36 |
NG_016275.1:g.12741A>C , LRG_151:g.12741A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000525467.2:n.1018A>C | ||
ENST00000696732.1:n.2519A>C | ||
ENST00000227752.8:c.670A>C MANE Select | ENSP00000227752.4:p.Ile224Leu | |
ENST00000529924.6:n.2248A>C | ||
ENST00000227752.7:c.670A>C | ENSP00000227752.3:p.Ile224Leu | |
ENST00000526544.5:c.*206A>C | ENSP00000435317.1:n.*206A>C | |
ENST00000529924.5:n.2248A>C | ||
ENST00000530178.1:n.536A>C | ||
ENST00000530761.5:n.1047A>C | ||
ENST00000532009.1:n.486A>C | ||
ENST00000533700.5:n.877A>C | ||
ENST00000534574.5:c.*610A>C | ENSP00000436328.1:n.*610A>C | |
NM_001558.3:c.670A>C , LRG_151t1:c.670A>C | NP_001549.2:p.Ile224Leu | |
NR_026691.1:n.877A>C | ||
XM_024448493.1:c.223A>C | XP_024304261.1:p.Ile75Leu | |
NM_001558.4:c.670A>C MANE Select | NP_001549.2:p.Ile224Leu | |
NR_026691.2:n.874A>C |