HGVS | Genome Assembly |
---|---|
NC_000011.10:g.62576999C>A , CM000673.2:g.62576999C>A | GRCh38 |
NC_000011.9:g.62344471C>A , CM000673.1:g.62344471C>A | GRCh37 |
NC_000011.8:g.62101047C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000476907.6:c.1289G>T MANE Select | ENSP00000419607.1:p.Ser430Ile | |
ENST00000308436.11:c.1403G>T | ENSP00000308000.7:p.Ser468Ile | |
ENST00000463241.2:n.154G>T | ||
ENST00000469480.1:n.95G>T | ||
ENST00000476907.5:c.1289G>T | ENSP00000419607.1:p.Ser430Ile | |
ENST00000496634.2:c.1289G>T | ENSP00000456163.1:p.Ser430Ile | |
ENST00000526409.5:n.159G>T | ||
NM_022830.2:c.1403G>T | NP_073741.2:p.Ser468Ile | |
NM_001367906.1:c.1271-41G>T | NP_001354835.1:n.1271-41G>T | |
NM_022830.3:c.1289G>T MANE Select | NP_073741.3:p.Ser430Ile |