HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135833176C>A , CM000664.2:g.135833176C>A | GRCh38 |
NC_000002.11:g.136590746C>A , CM000664.1:g.136590746C>A | GRCh37 |
NC_000002.10:g.136307216C>A | NCBI36 |
NG_008104.2:g.26994G>T , LRG_338:g.26994G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264162.7:c.655G>T MANE Select | ENSP00000264162.2:p.Val219Phe | |
ENST00000264162.6:c.655G>T | ENSP00000264162.2:p.Val219Phe | |
NM_002299.2:c.655G>T , LRG_338t1:c.655G>T | NP_002290.2:p.Val219Phe | |
NM_002299.3:c.655G>T | NP_002290.2:p.Val219Phe | |
XM_017004088.2:c.655G>T | XP_016859577.1:p.Val219Phe | |
NM_002299.4:c.655G>T MANE Select | NP_002290.2:p.Val219Phe |