HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30224840C>A , CM000679.2:g.30224840C>A | GRCh38 |
NC_000017.10:g.28551858C>A , CM000679.1:g.28551858C>A | GRCh37 |
NC_000017.9:g.25575984C>A | NCBI36 |
NG_011747.2:g.16097G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650711.1:c.-220-1925G>T MANE Select | ENSP00000498537.1:n.-220-1925G>T | |
ENST00000261707.7:c.-220-1925G>T | ENSP00000261707.3:n.-220-1925G>T | |
ENST00000394821.2:c.-220-1925G>T | ENSP00000378298.2:n.-220-1925G>T | |
ENST00000401766.6:c.-123-2759G>T | ENSP00000385822.2:n.-123-2759G>T | |
NM_001045.5:c.-220-1925G>T | NP_001036.1:n.-220-1925G>T | |
NM_001045.6:c.-220-1925G>T MANE Select | NP_001036.1:n.-220-1925G>T |