HGVS | Genome Assembly |
---|---|
NC_000002.12:g.208129782A>T , CM000664.2:g.208129782A>T | GRCh38 |
NC_000002.11:g.208994506A>T , CM000664.1:g.208994506A>T | GRCh37 |
NC_000002.10:g.208702751A>T | NCBI36 |
NG_008038.1:g.5049T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282141.4:c.9+2T>A MANE Select | ENSP00000282141.3:n.9+2T>A | |
ENST00000282141.3:c.9+2T>A | ENSP00000282141.3:n.9+2T>A | |
NM_020989.3:c.9+2T>A | NP_066269.1:n.9+2T>A | |
NR_038437.1:n.98-7274A>T | ||
XM_011510661.1:c.9+2T>A | XP_011508963.1:n.9+2T>A | |
XM_011510662.1:c.9+2T>A | XP_011508964.1:n.9+2T>A | |
XM_011510663.1:c.-120-99T>A | XP_011508965.1:n.-120-99T>A | |
NM_020989.4:c.9+2T>A MANE Select | NP_066269.1:n.9+2T>A |