HGVS | Genome Assembly |
---|---|
NC_000016.10:g.11292825C>T , CM000678.2:g.11292825C>T | GRCh38 |
NC_000016.9:g.11386682C>T , CM000678.1:g.11386682C>T | GRCh37 |
NC_000016.8:g.11294183C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649869.1:n.152+43047C>T | ||
ENST00000572173.1:c.-515-2391C>T | ENSP00000461206.1:n.-515-2391C>T | |
ENST00000573910.1:n.161-23627C>T | ||
XR_933070.1:n.733+43047C>T | ||
XR_933070.3:n.876+43047C>T |