HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135807160A>T , CM000664.2:g.135807160A>T | GRCh38 |
NC_000002.11:g.136564730A>T , CM000664.1:g.136564730A>T | GRCh37 |
NC_000002.10:g.136281200A>T | NCBI36 |
NG_008104.2:g.53010T>A , LRG_338:g.53010T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264162.7:c.4141T>A MANE Select | ENSP00000264162.2:p.Phe1381Ile | |
ENST00000264162.6:c.4141T>A | ENSP00000264162.2:p.Phe1381Ile | |
ENST00000452974.1:c.2437T>A | ENSP00000391231.1:p.Phe813Ile | |
NM_002299.2:c.4141T>A , LRG_338t1:c.4141T>A | NP_002290.2:p.Phe1381Ile | |
NM_002299.3:c.4141T>A | NP_002290.2:p.Phe1381Ile | |
XM_017004088.2:c.4141T>A | XP_016859577.1:p.Phe1381Ile | |
NM_002299.4:c.4141T>A MANE Select | NP_002290.2:p.Phe1381Ile |