HGVS | Genome Assembly |
---|---|
NC_000015.10:g.44711482C>A , CM000677.2:g.44711482C>A | GRCh38 |
NC_000015.9:g.45003680C>A , CM000677.1:g.45003680C>A | GRCh37 |
NC_000015.8:g.42790972C>A | NCBI36 |
NG_012920.1:g.4996C>A | |
NG_012920.2:g.5006C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695792.1:n.83+42C>A | ||
ENST00000558401.5:c.-65C>A | ENSP00000452780.1:n.-65C>A |