HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30224429G>C , CM000679.2:g.30224429G>C | GRCh38 |
NC_000017.10:g.28551447G>C , CM000679.1:g.28551447G>C | GRCh37 |
NC_000017.9:g.25575573G>C | NCBI36 |
NG_011747.2:g.16508C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650711.1:c.-220-1514C>G MANE Select | ENSP00000498537.1:n.-220-1514C>G | |
ENST00000261707.7:c.-220-1514C>G | ENSP00000261707.3:n.-220-1514C>G | |
ENST00000394821.2:c.-220-1514C>G | ENSP00000378298.2:n.-220-1514C>G | |
ENST00000401766.6:c.-123-2348C>G | ENSP00000385822.2:n.-123-2348C>G | |
NM_001045.5:c.-220-1514C>G | NP_001036.1:n.-220-1514C>G | |
NM_001045.6:c.-220-1514C>G MANE Select | NP_001036.1:n.-220-1514C>G |