HGVS | Genome Assembly |
---|---|
NC_000003.12:g.52224180T>A , CM000665.2:g.52224180T>A | GRCh38 |
NC_000003.11:g.52258196T>A , CM000665.1:g.52258196T>A | GRCh37 |
NC_000003.10:g.52233236T>A | NCBI36 |
NG_033933.1:g.6984A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360658.3:c.136A>T MANE Select | ENSP00000353874.2:p.Asn46Tyr | |
ENST00000360658.2:c.136A>T | ENSP00000353874.2:p.Asn46Tyr | |
ENST00000478201.1:c.310A>T | ||
ENST00000494383.1:c.596A>T | ||
NM_017442.3:c.136A>T | NP_059138.1:p.Asn46Tyr | |
NM_017442.4:c.136A>T MANE Select | NP_059138.1:p.Asn46Tyr |