HGVS | Genome Assembly |
---|---|
NC_000014.9:g.28767982C>A , CM000676.2:g.28767982C>A | GRCh38 |
NC_000014.8:g.29237188C>A , CM000676.1:g.29237188C>A | GRCh37 |
NC_000014.7:g.28306939C>A | NCBI36 |
NG_009367.1:g.5902C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706482.1:c.703C>A | ENSP00000516406.1:p.Leu235Ile | |
ENST00000313071.7:c.703C>A MANE Select | ENSP00000339004.3:p.Leu235Ile | |
ENST00000313071.6:c.703C>A | ENSP00000339004.3:p.Leu235Ile | |
NM_005249.4:c.703C>A | NP_005240.3:p.Leu235Ile | |
NM_005249.5:c.703C>A MANE Select | NP_005240.3:p.Leu235Ile |