HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40866610G>A , CM000679.2:g.40866610G>A | GRCh38 |
NC_000017.10:g.39022862G>A , CM000679.1:g.39022862G>A | GRCh37 |
NC_000017.9:g.36276388G>A | NCBI36 |
NG_008077.1:g.5601C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251643.5:c.567+10C>T MANE Select | ENSP00000251643.4:n.567+10C>T | |
ENST00000647902.1:c.459+10C>T | ENSP00000497770.1:n.459+10C>T | |
ENST00000251643.4:c.567+10C>T | ENSP00000251643.4:n.567+10C>T | |
NM_000223.3:c.567+10C>T | NP_000214.1:n.567+10C>T | |
XR_934754.1:n.1500+15750G>A | ||
XR_934754.2:n.2008+15750G>A | ||
NM_000223.4:c.567+10C>T MANE Select | NP_000214.1:n.567+10C>T |