HGVS | Genome Assembly |
---|---|
NC_000014.9:g.60649762G>A , CM000676.2:g.60649762G>A | GRCh38 |
NC_000014.8:g.61116480G>A , CM000676.1:g.61116480G>A | GRCh37 |
NC_000014.7:g.60186233G>A | NCBI36 |
NG_008231.1:g.4676C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000553535.2:n.248+2173C>T | ||
ENST00000554986.2:c.42-3185C>T | ENSP00000452700.2:n.42-3185C>T | |
ENST00000555955.3:n.1197+2173C>T |