HGVS | Genome Assembly |
---|---|
NC_000014.9:g.53958334C>A , CM000676.2:g.53958334C>A | GRCh38 |
NC_000014.8:g.54425052C>A , CM000676.1:g.54425052C>A | GRCh37 |
NC_000014.7:g.53494802C>A | NCBI36 |
NG_009215.1:g.3503G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559642.1:c.-133+386G>T | ENSP00000453467.1:n.-133+386G>T |