HGVS | Genome Assembly |
---|---|
NC_000019.10:g.45205630T>G , CM000681.2:g.45205630T>G | GRCh38 |
NC_000019.9:g.45708888T>G , CM000681.1:g.45708888T>G | GRCh37 |
NC_000019.8:g.50400728T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000591569.1:n.282+3123T>G | ||
ENST00000587566.5:c.-276-53359T>G (MARK4) | ENSP00000465414.1:n.-276-53359T>G | |
XR_935826.1:n.1517+3123T>G (BLOC1S3) | ||
XR_935827.1:n.1517+3123T>G (BLOC1S3) | ||
XR_935829.1:n.1489+3123T>G (BLOC1S3) |