HGVS | Genome Assembly |
---|---|
NC_000010.11:g.17126721T>G , CM000672.2:g.17126721T>G | GRCh38 |
NC_000010.10:g.17168720T>G , CM000672.1:g.17168720T>G | GRCh37 |
NC_000010.9:g.17208726T>G | NCBI36 |
NG_008967.1:g.8097A>C , LRG_540:g.8097A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000377833.10:c.387+40A>C MANE Select | ENSP00000367064.4:n.387+40A>C | |
ENST00000377823.1:c.387+40A>C | ENSP00000367054.1:n.387+40A>C | |
ENST00000377833.8:c.387+40A>C | ENSP00000367064.4:n.387+40A>C | |
ENST00000433666.5:c.48+40A>C | ENSP00000415970.1:n.48+40A>C | |
NM_001081.3:c.387+40A>C , LRG_540t1:c.387+40A>C | NP_001072.2:n.387+40A>C | |
XM_011519708.1:c.387+40A>C | XP_011518010.1:n.387+40A>C | |
XM_011519708.2:c.387+40A>C | XP_011518010.1:n.387+40A>C | |
NM_001081.4:c.387+40A>C MANE Select | NP_001072.2:n.387+40A>C |