HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73404224T>C , CM000666.2:g.73404224T>C | GRCh38 |
NC_000004.11:g.74269941T>C , CM000666.1:g.74269941T>C | GRCh37 |
NC_000004.10:g.74488805T>C | NCBI36 |
NG_009291.1:g.4970T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000441319.5:c.48-145T>C | ENSP00000392541.1:n.48-145T>C |