HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766115A>T , CM000674.2:g.57766115A>T | GRCh38 |
NC_000012.11:g.58159898A>T , CM000674.1:g.58159898A>T | GRCh37 |
NC_000012.10:g.56446165A>T | NCBI36 |
NG_007076.1:g.6079T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.190T>A | ||
ENST00000713544.1:c.278T>A | ENSP00000518840.1:p.Leu93His | |
ENST00000713545.1:c.278T>A | ENSP00000518841.1:p.Leu93His | |
ENST00000228606.9:c.278T>A MANE Select | ENSP00000228606.4:p.Leu93His | |
ENST00000228606.8:c.278T>A | ENSP00000228606.4:p.Leu93His | |
ENST00000546496.1:n.106T>A | ||
ENST00000546609.1:c.190T>A | ||
ENST00000547344.5:n.332T>A | ||
ENST00000552186.1:n.397T>A | ||
NM_000785.3:c.278T>A | NP_000776.1:p.Leu93His | |
NM_000785.4:c.278T>A MANE Select | NP_000776.1:p.Leu93His |