HGVS | Genome Assembly |
---|---|
NC_000016.10:g.20360266G>A , CM000678.2:g.20360266G>A | GRCh38 |
NC_000016.9:g.20371588G>A , CM000678.1:g.20371588G>A | GRCh37 |
NC_000016.8:g.20279089G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000302451.9:c.1506+302C>T MANE Select | ENSP00000305465.4:n.1506+302C>T | |
ENST00000302451.8:c.1506+302C>T | ENSP00000305465.4:n.1506+302C>T | |
NM_174924.1:c.1506+302C>T | NP_777584.1:n.1506+302C>T | |
XM_006721024.1:c.1206+302C>T | XP_006721087.1:n.1206+302C>T | |
XM_011545766.1:c.684+302C>T | XP_011544068.1:n.684+302C>T | |
XR_950754.1:n.1581+302C>T | ||
XM_011545766.3:c.684+302C>T | XP_011544068.1:n.684+302C>T | |
NM_174924.2:c.1506+302C>T MANE Select | NP_777584.1:n.1506+302C>T |