HGVS | Genome Assembly |
---|---|
NC_000014.9:g.60649759G>T , CM000676.2:g.60649759G>T | GRCh38 |
NC_000014.8:g.61116477G>T , CM000676.1:g.61116477G>T | GRCh37 |
NC_000014.7:g.60186230G>T | NCBI36 |
NG_008231.1:g.4679C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000553535.2:n.248+2176C>A | ||
ENST00000554986.2:c.42-3182C>A | ENSP00000452700.2:n.42-3182C>A | |
ENST00000555955.3:n.1197+2176C>A |