HGVS | Genome Assembly |
---|---|
NC_000010.11:g.114043906A>C , CM000672.2:g.114043906A>C | GRCh38 |
NC_000010.10:g.115803665A>C , CM000672.1:g.115803665A>C | GRCh37 |
NC_000010.9:g.115793655A>C | NCBI36 |
NG_012187.1:g.4860A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369295.4:c.-227A>C MANE Select | ENSP00000358301.2:n.-227A>C | |
NM_000684.3:c.-227A>C MANE Select | NP_000675.1:n.-227A>C |