HGVS | Genome Assembly |
---|---|
NC_000010.11:g.17126742G>A , CM000672.2:g.17126742G>A | GRCh38 |
NC_000010.10:g.17168741G>A , CM000672.1:g.17168741G>A | GRCh37 |
NC_000010.9:g.17208747G>A | NCBI36 |
NG_008967.1:g.8076C>T , LRG_540:g.8076C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377833.10:c.387+19C>T MANE Select | ENSP00000367064.4:n.387+19C>T | |
ENST00000377823.1:c.387+19C>T | ENSP00000367054.1:n.387+19C>T | |
ENST00000377833.8:c.387+19C>T | ENSP00000367064.4:n.387+19C>T | |
ENST00000433666.5:c.48+19C>T | ENSP00000415970.1:n.48+19C>T | |
NM_001081.3:c.387+19C>T , LRG_540t1:c.387+19C>T | NP_001072.2:n.387+19C>T | |
XM_011519708.1:c.387+19C>T | XP_011518010.1:n.387+19C>T | |
XM_011519708.2:c.387+19C>T | XP_011518010.1:n.387+19C>T | |
NM_001081.4:c.387+19C>T MANE Select | NP_001072.2:n.387+19C>T |