HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33118472C>T , CM000668.2:g.33118472C>T | GRCh38 |
NC_000006.11:g.33086249C>T , CM000668.1:g.33086249C>T | GRCh37 |
NC_000006.10:g.33194227C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000435074.6:n.522C>T | ||
ENST00000684891.1:n.409C>T | ||
ENST00000686632.1:n.415C>T | ||
ENST00000692641.1:n.418C>T | ||
ENST00000692715.1:n.540C>T | ||
ENST00000435074.5:n.511C>T | ||
ENST00000470997.1:n.364+1252C>T | ||
NR_001435.1:n.364+1252C>T | ||
NR_001435.2:n.364+1252C>T |