HGVS | Genome Assembly |
---|---|
NC_000016.10:g.31090813C>A , CM000678.2:g.31090813C>A | GRCh38 |
NC_000016.9:g.31102134C>A , CM000678.1:g.31102134C>A | GRCh37 |
NC_000016.8:g.31009635C>A | NCBI36 |
NG_011564.1:g.9143G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000529564.1:c.283+2499G>T | ENSP00000431371.1:n.283+2499G>T | |
ENST00000532364.1:c.173+3744G>T | ENSP00000460316.1:n.173+3744G>T | |
ENST00000533518.5:c.407+279G>T |