HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67585225T>A , CM000673.2:g.67585225T>A | GRCh38 |
NC_000011.9:g.67352696T>A , CM000673.1:g.67352696T>A | GRCh37 |
NC_000011.8:g.67109272T>A | NCBI36 |
NG_012075.1:g.6631T>A , LRG_723:g.6631T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000398603.6:c.320T>A | ENSP00000381604.1:p.Leu107His | |
ENST00000398606.10:c.320T>A MANE Select | ENSP00000381607.3:p.Leu107His | |
ENST00000646888.1:c.*36T>A | ENSP00000494477.1:n.*36T>A | |
ENST00000398603.5:c.320T>A | ENSP00000381604.1:p.Leu107His | |
ENST00000398606.7:c.320T>A | ENSP00000381607.3:p.Leu107His | |
ENST00000467591.1:n.431T>A | ||
ENST00000494593.1:n.1115T>A | ||
ENST00000498765.5:c.383T>A | ||
NM_000852.3:c.320T>A , LRG_723t1:c.320T>A | NP_000843.1:p.Leu107His | |
NM_000852.4:c.320T>A MANE Select | NP_000843.1:p.Leu107His |