HGVS | Genome Assembly |
---|---|
NC_000010.11:g.62620602T>C , CM000672.2:g.62620602T>C | GRCh38 |
NC_000010.10:g.64380362T>C , CM000672.1:g.64380362T>C | GRCh37 |
NC_000010.9:g.64050368T>C | NCBI36 |
NG_021209.1:g.251447T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647733.1:c.982-2501T>C | ENSP00000502188.1:n.982-2501T>C | |
ENST00000395251.5:c.-184-23140T>C | ENSP00000378672.1:n.-184-23140T>C | |
ENST00000410046.7:c.982-2501T>C | ENSP00000387091.3:n.982-2501T>C | |
NM_199451.2:c.982-2501T>C | NP_955523.1:n.982-2501T>C | |
NM_199452.3:c.-184-23140T>C | NP_955524.3:n.-184-23140T>C | |
NM_199451.3:c.982-2501T>C | NP_955523.1:n.982-2501T>C |