HGVS | Genome Assembly |
---|---|
NC_000001.11:g.114713887C>T , CM000663.2:g.114713887C>T | GRCh38 |
NC_000001.10:g.115256508C>T , CM000663.1:g.115256508C>T | GRCh37 |
NC_000001.9:g.115058031C>T | NCBI36 |
NG_007572.1:g.8008G>A , LRG_92:g.8008G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369535.5:c.203G>A MANE Select | ENSP00000358548.4:p.Arg68Lys | |
ENST00000369535.4:c.203G>A | ENSP00000358548.4:p.Arg68Lys | |
NM_002524.4:c.203G>A | NP_002515.1:p.Arg68Lys | |
NM_002524.5:c.203G>A MANE Select | NP_002515.1:p.Arg68Lys |