HGVS | Genome Assembly |
---|---|
NC_000002.12:g.73610831A>C , CM000664.2:g.73610831A>C | GRCh38 |
NC_000002.11:g.73837958A>C , CM000664.1:g.73837958A>C | GRCh37 |
NC_000002.10:g.73691466A>C | NCBI36 |
NG_011690.1:g.230079A>C , LRG_741:g.230079A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651434.1:c.3933+1149A>C |