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