HGVS | Genome Assembly |
---|---|
NC_000019.10:g.8321432G>A , CM000681.2:g.8321432G>A | GRCh38 |
NC_000019.9:g.8386316G>A , CM000681.1:g.8386316G>A | GRCh37 |
NC_000019.8:g.8292316G>A | NCBI36 |
NG_028213.1:g.4965C>T | |
NG_028213.2:g.4965C>T | |
NG_050637.1:g.4933G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351593.9:c.-87-59428C>T (ELAVL1) | ENSP00000264073.6:n.-87-59428C>T | |
ENST00000449223.3:n.275G>A (RPS28) |