HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764516A>T , CM000674.2:g.57764516A>T | GRCh38 |
NC_000012.11:g.58158299A>T , CM000674.1:g.58158299A>T | GRCh37 |
NC_000012.10:g.56444566A>T | NCBI36 |
NG_007076.1:g.7678T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000713544.1:c.1079T>A | ENSP00000518840.1:p.Leu360His | |
ENST00000713545.1:c.*3T>A | ENSP00000518841.1:n.*3T>A | |
ENST00000228606.9:c.998T>A MANE Select | ENSP00000228606.4:p.Leu333His | |
ENST00000228606.8:c.998T>A | ENSP00000228606.4:p.Leu333His | |
ENST00000546567.5:c.293T>A | ENSP00000449472.1:p.Leu98His | |
ENST00000547344.5:n.1137T>A | ||
NM_000785.3:c.998T>A | NP_000776.1:p.Leu333His | |
NM_000785.4:c.998T>A MANE Select | NP_000776.1:p.Leu333His |