HGVS | Genome Assembly |
---|---|
NC_000015.10:g.89776880A>C , CM000677.2:g.89776880A>C | GRCh38 |
NC_000015.9:g.90320111A>C , CM000677.1:g.90320111A>C | GRCh37 |
NC_000015.8:g.88121115A>C | NCBI36 |
NG_008608.1:g.5523A>C | |
NG_008608.2:g.21290A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000341735.5:c.523A>C MANE Select | ENSP00000342392.3:p.Thr175Pro | |
ENST00000341735.3:c.523A>C | ENSP00000342392.3:p.Thr175Pro | |
ENST00000558723.1:n.39-1185A>C | ||
ENST00000560219.2:c.31-1185A>C | ENSP00000452998.1:n.31-1185A>C | |
NM_001039958.1:c.523A>C | NP_001035047.1:p.Thr175Pro | |
NM_001039958.2:c.523A>C MANE Select | NP_001035047.1:p.Thr175Pro |