HGVS | Genome Assembly |
---|---|
NC_000023.11:g.48683796T>A , CM000685.2:g.48683796T>A | GRCh38 |
NC_000023.10:g.48542185T>A , CM000685.1:g.48542185T>A | GRCh37 |
NC_000023.9:g.48427129T>A | NCBI36 |
NG_007877.1:g.5000T>A , LRG_125:g.5000T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698625.1:c.-34-24T>A | ENSP00000513844.1:n.-34-24T>A | |
ENST00000376701.4:c.-58T>A | ENSP00000365891.4:n.-58T>A | |
ENST00000450772.5:c.-34-24T>A | ENSP00000410537.1:n.-34-24T>A | |
XM_011543977.1:c.-58T>A | XP_011542279.1:n.-58T>A | |
XM_011543977.2:c.-58T>A | XP_011542279.1:n.-58T>A | |
XM_017029786.1:c.-58T>A | XP_016885275.1:n.-58T>A |