HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713488C>T , CM000681.2:g.6713488C>T | GRCh38 |
NC_000019.9:g.6713499C>T , CM000681.1:g.6713499C>T | GRCh37 |
NC_000019.8:g.6664499C>T | NCBI36 |
NG_009557.1:g.12164G>A , LRG_27:g.12164G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.672G>A | ENSP00000512083.1:p.Val224= | |
ENST00000695692.1:n.119G>A | ||
ENST00000245907.11:c.795G>A MANE Select | ENSP00000245907.4:p.Val265= | |
ENST00000245907.10:c.795G>A | ENSP00000245907.4:p.Val265= | |
ENST00000595577.1:n.299G>A | ||
ENST00000597442.5:n.45G>A | ||
NM_000064.3:c.795G>A | NP_000055.2:p.Val265= | |
NM_000064.4:c.795G>A MANE Select | NP_000055.2:p.Val265= |