HGVS | Genome Assembly |
---|---|
NC_000016.10:g.8797763T>C , CM000678.2:g.8797763T>C | GRCh38 |
NC_000016.9:g.8891620T>C , CM000678.1:g.8891620T>C | GRCh37 |
NC_000016.8:g.8799121T>C | NCBI36 |
NG_009209.1:g.4951T>C | |
NG_033146.1:g.4886A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682008.1:c.-120T>C | ENSP00000507849.1:n.-120T>C | |
ENST00000566983.5:c.-15-4036T>C | ENSP00000457956.1:n.-15-4036T>C |