HGVS | Genome Assembly |
---|---|
NC_000001.11:g.630053C>T , CM000663.2:g.630053C>T | GRCh38 |
NC_000001.10:g.565433C>T , CM000663.1:g.565433C>T | GRCh37 |
NC_000001.9:g.555296C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000419394.2:n.481-43098G>A | ||
ENST00000440196.3:n.87-1047G>A | ||
ENST00000440200.5:n.170-21997G>A | ||
ENST00000452176.2:n.21-1047G>A | ||
ENST00000634337.2:n.161-21997G>A | ||
ENST00000635509.2:n.313-28476G>A | ||
ENST00000641296.1:n.75-1047G>A | ||
ENST00000648019.1:n.636-21997G>A | ||
ENST00000457540.1:n.414C>T |