HGVS | Genome Assembly |
---|---|
NC_000002.12:g.233618455A>T , CM000664.2:g.233618455A>T | GRCh38 |
NC_000002.11:g.234527101A>T , CM000664.1:g.234527101A>T | GRCh37 |
NC_000002.10:g.234191840A>T | NCBI36 |
NG_002601.2:g.33712A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373450.5:c.748A>T MANE Select | ENSP00000362549.4:p.Ile250Phe | |
ENST00000373450.4:c.748A>T | ENSP00000362549.4:p.Ile250Phe | |
NM_019076.4:c.748A>T | NP_061949.3:p.Ile250Phe | |
NM_019076.5:c.748A>T MANE Select | NP_061949.3:p.Ile250Phe |