HGVS | Genome Assembly |
---|---|
NC_000008.11:g.39965626A>T , CM000670.2:g.39965626A>T | GRCh38 |
NC_000008.10:g.39823145A>T , CM000670.1:g.39823145A>T | GRCh37 |
NC_000008.9:g.39942302A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000502986.4:c.195+1923A>T MANE Select | ENSP00000443432.2:n.195+1923A>T | |
ENST00000502986.3:c.195+1923A>T | ENSP00000443432.2:n.195+1923A>T | |
ENST00000343295.8:n.817+1923A>T | ||
ENST00000389060.8:c.195+1923A>T | ENSP00000426447.1:n.195+1923A>T | |
ENST00000502986.2:c.234+1923A>T | ENSP00000443432.1:n.234+1923A>T | |
NM_194294.2:c.234+1923A>T | NP_919270.2:n.234+1923A>T | |
NM_194294.3:c.234+1923A>T | NP_919270.2:n.234+1923A>T | |
NM_001395206.1:c.195+1923A>T | NP_001382135.1:n.195+1923A>T | |
NM_194294.5:c.195+1923A>T MANE Select | NP_919270.3:n.195+1923A>T |