HGVS | Genome Assembly |
---|---|
NC_000010.11:g.62631563A>T , CM000672.2:g.62631563A>T | GRCh38 |
NC_000010.10:g.64391323A>T , CM000672.1:g.64391323A>T | GRCh37 |
NC_000010.9:g.64061329A>T | NCBI36 |
NG_021209.1:g.262408A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647733.1:c.1129+8313A>T | ENSP00000502188.1:n.1129+8313A>T | |
ENST00000395251.5:c.-184-12179A>T | ENSP00000378672.1:n.-184-12179A>T | |
ENST00000410046.7:c.1129+8313A>T | ENSP00000387091.3:n.1129+8313A>T | |
NM_199451.2:c.1129+8313A>T | NP_955523.1:n.1129+8313A>T | |
NM_199452.3:c.-184-12179A>T | NP_955524.3:n.-184-12179A>T | |
XR_946002.1:n.82-6440T>A | ||
XR_946002.2:n.82-6440T>A | ||
NM_199451.3:c.1129+8313A>T | NP_955523.1:n.1129+8313A>T |