HGVS | Genome Assembly |
---|---|
NC_000022.11:g.41926239G>A , CM000684.2:g.41926239G>A | GRCh38 |
NC_000022.10:g.42322243G>A , CM000684.1:g.42322243G>A | GRCh37 |
NC_000022.9:g.40652189G>A | NCBI36 |
NG_007579.1:g.5579C>T , LRG_184:g.5579C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291232.5:c.229C>T MANE Select | ENSP00000291232.3:p.Leu77= | |
ENST00000291232.4:c.229C>T | ENSP00000291232.3:p.Leu77= | |
NM_052945.3:c.229C>T , LRG_184t1:c.229C>T | NP_443177.1:p.Leu77= | |
NM_052945.4:c.229C>T MANE Select | NP_443177.1:p.Leu77= |