HGVS | Genome Assembly |
---|---|
NC_000010.11:g.62631535T>G , CM000672.2:g.62631535T>G | GRCh38 |
NC_000010.10:g.64391295T>G , CM000672.1:g.64391295T>G | GRCh37 |
NC_000010.9:g.64061301T>G | NCBI36 |
NG_021209.1:g.262380T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647733.1:c.1129+8285T>G | ENSP00000502188.1:n.1129+8285T>G | |
ENST00000395251.5:c.-184-12207T>G | ENSP00000378672.1:n.-184-12207T>G | |
ENST00000410046.7:c.1129+8285T>G | ENSP00000387091.3:n.1129+8285T>G | |
NM_199451.2:c.1129+8285T>G | NP_955523.1:n.1129+8285T>G | |
NM_199452.3:c.-184-12207T>G | NP_955524.3:n.-184-12207T>G | |
XR_946002.1:n.82-6412A>C | ||
XR_946002.2:n.82-6412A>C | ||
NM_199451.3:c.1129+8285T>G | NP_955523.1:n.1129+8285T>G |