HGVS | Genome Assembly |
---|---|
NC_000004.12:g.3518085C>A , CM000666.2:g.3518085C>A | GRCh38 |
NC_000004.11:g.3519812C>A , CM000666.1:g.3519812C>A | GRCh37 |
NC_000004.10:g.3489610C>A | NCBI36 |
NG_033873.1:g.19413G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648517.1:c.700G>T | ENSP00000496947.1:p.Gly234Cys | |
ENST00000650182.1:c.700G>T MANE Select | ENSP00000497444.1:p.Gly234Cys | |
ENST00000296325.9:n.663G>T | ||
ENST00000500728.2:c.700G>T | ENSP00000421922.1:p.Gly234Cys | |
ENST00000509198.1:n.746G>T | ||
ENST00000515119.5:c.*477G>T | ENSP00000421648.1:n.*477G>T | |
NM_002337.3:c.700G>T | NP_002328.1:p.Gly234Cys | |
NR_110005.1:n.663G>T | ||
NM_002337.4:c.700G>T MANE Select | NP_002328.1:p.Gly234Cys | |
XR_002959730.1:n.785G>T | ||
NR_110005.2:n.663G>T |