HGVS | Genome Assembly |
---|---|
NC_000012.12:g.123624792T>A , CM000674.2:g.123624792T>A | GRCh38 |
NC_000012.11:g.124109339T>A , CM000674.1:g.124109339T>A | GRCh37 |
NC_000012.10:g.122675292T>A | NCBI36 |
NG_015862.1:g.13985A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000424014.7:c.622A>T MANE Select | ENSP00000416250.2:p.Asn208Tyr | |
ENST00000424014.6:c.622A>T | ENSP00000416250.2:p.Asn208Tyr | |
ENST00000534960.5:c.487A>T | ||
ENST00000539951.5:c.512+1633A>T | ENSP00000438060.1:n.512+1633A>T | |
NM_001414.3:c.622A>T | NP_001405.1:p.Asn208Tyr | |
NM_001414.4:c.622A>T MANE Select | NP_001405.1:p.Asn208Tyr |