HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7530326T>A , CM000681.2:g.7530326T>A | GRCh38 |
NC_000019.9:g.7595212T>A , CM000681.1:g.7595212T>A | GRCh37 |
NC_000019.8:g.7501212T>A | NCBI36 |
NG_013374.1:g.1175T>A | |
NG_015806.1:g.12717T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.1400T>A MANE Select | ENSP00000264079.5:p.Leu467His | |
ENST00000264079.10:c.1400T>A | ENSP00000264079.5:p.Leu467His | |
ENST00000394321.9:n.1715T>A | ||
ENST00000594692.1:n.396T>A | ||
ENST00000595860.5:n.583T>A | ||
ENST00000599334.1:c.237-109T>A | ||
NM_020533.2:c.1400T>A | NP_065394.1:p.Leu467His | |
NM_020533.3:c.1400T>A MANE Select | NP_065394.1:p.Leu467His |