HGVS | Genome Assembly |
---|---|
NC_000001.11:g.114713895A>T , CM000663.2:g.114713895A>T | GRCh38 |
NC_000001.10:g.115256516A>T , CM000663.1:g.115256516A>T | GRCh37 |
NC_000001.9:g.115058039A>T | NCBI36 |
NG_007572.1:g.8000T>A , LRG_92:g.8000T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369535.5:c.195T>A MANE Select | ENSP00000358548.4:p.Ser65Arg | |
ENST00000369535.4:c.195T>A | ENSP00000358548.4:p.Ser65Arg | |
NM_002524.4:c.195T>A | NP_002515.1:p.Ser65Arg | |
NM_002524.5:c.195T>A MANE Select | NP_002515.1:p.Ser65Arg |