HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31667338T>A , CM000683.2:g.31667338T>A | GRCh38 |
NC_000021.8:g.33039651T>A , CM000683.1:g.33039651T>A | GRCh37 |
NC_000021.7:g.31961522T>A | NCBI36 |
NG_008689.1:g.12717T>A , LRG_652:g.12717T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.320T>A MANE Select | ENSP00000270142.7:p.Leu107His | |
ENST00000270142.10:c.320T>A | ENSP00000270142.6:p.Leu107His | |
ENST00000389995.4:c.263T>A | ENSP00000374645.4:p.Leu88His | |
ENST00000470944.1:n.1248T>A | ||
ENST00000476106.5:n.583T>A | ||
NM_000454.4:c.320T>A , LRG_652t1:c.320T>A | NP_000445.1:p.Leu107His | |
NM_000454.5:c.320T>A MANE Select | NP_000445.1:p.Leu107His |