HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940735A>T , CM000678.2:g.67940735A>T | GRCh38 |
NC_000016.9:g.67974638A>T , CM000678.1:g.67974638A>T | GRCh37 |
NC_000016.8:g.66532139A>T | NCBI36 |
NG_009778.1:g.8378T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.749-257T>A MANE Select | ENSP00000264005.5:n.749-257T>A | |
ENST00000264005.9:c.749-257T>A | ENSP00000264005.5:n.749-257T>A | |
ENST00000570369.5:c.156-661T>A | ||
ENST00000570980.1:c.533-257T>A | ENSP00000464651.1:n.533-257T>A | |
ENST00000573538.5:c.486+2T>A | ENSP00000463220.1:n.486+2T>A | |
NM_000229.1:c.749-257T>A | NP_000220.1:n.749-257T>A | |
NM_000229.2:c.749-257T>A MANE Select | NP_000220.1:n.749-257T>A |