HGVS | Genome Assembly |
---|---|
NC_000008.11:g.64604801C>A , CM000670.2:g.64604801C>A | GRCh38 |
NC_000008.10:g.65517358C>A , CM000670.1:g.65517358C>A | GRCh37 |
NC_000008.9:g.65679912C>A | NCBI36 |
NG_008338.1:g.198991G>T | |
NG_008338.2:g.198991G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310193.4:c.1114G>T MANE Select | ENSP00000310721.3:p.Val372Phe | |
ENST00000310193.3:c.1114G>T | ENSP00000310721.3:p.Val372Phe | |
ENST00000523954.1:n.388G>T | ||
NM_004820.3:c.1114G>T | NP_004811.1:p.Val372Phe | |
NM_001324112.1:c.1114G>T | NP_001311041.1:p.Val372Phe | |
NM_004820.4:c.1114G>T | NP_004811.1:p.Val372Phe | |
XM_017014002.1:c.1180G>T | XP_016869491.1:p.Val394Phe | |
NM_004820.5:c.1114G>T MANE Select | NP_004811.1:p.Val372Phe | |
NM_001324112.2:c.1114G>T | NP_001311041.1:p.Val372Phe |