HGVS | Genome Assembly |
---|---|
NC_000019.10:g.50871750G>A , CM000681.2:g.50871750G>A | GRCh38 |
NC_000019.9:g.51375006G>A , CM000681.1:g.51375006G>A | GRCh37 |
NC_000019.8:g.56066818G>A | NCBI36 |
NG_031984.1:g.3318G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000593493.5:c.-332-1433G>A (KLK2) | ENSP00000472852.1:n.-332-1433G>A | |
ENST00000595375.5:n.149+1001G>A (KLK2) | ||
ENST00000596950.5:n.113+893G>A (KLK2) | ||
ENST00000597509.5:n.243+893G>A (KLK2) | ||
XR_935817.1:n.1325-5931G>A (KLK3) |