HGVS | Genome Assembly |
---|---|
NC_000014.9:g.60648559G>T , CM000676.2:g.60648559G>T | GRCh38 |
NC_000014.8:g.61115277G>T , CM000676.1:g.61115277G>T | GRCh37 |
NC_000014.7:g.60185030G>T | NCBI36 |
NG_008231.1:g.5879C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000645694.3:c.560+71C>A MANE Select | ENSP00000494686.1:n.560+71C>A | |
ENST00000247182.6:c.560+71C>A | ENSP00000247182.5:n.560+71C>A | |
ENST00000553535.2:n.249-1982C>A | ||
ENST00000554986.2:c.42-1982C>A | ENSP00000452700.2:n.42-1982C>A | |
ENST00000555955.3:n.1198-1982C>A | ||
NM_005982.3:c.560+71C>A | NP_005973.1:n.560+71C>A | |
XM_017021602.2:c.501+130C>A | XP_016877091.1:n.501+130C>A | |
NM_005982.4:c.560+71C>A MANE Select | NP_005973.1:n.560+71C>A |