HGVS | Genome Assembly |
---|---|
NC_000016.10:g.11281331G>T , CM000678.2:g.11281331G>T | GRCh38 |
NC_000016.9:g.11375188G>T , CM000678.1:g.11375188G>T | GRCh37 |
NC_000016.8:g.11282689G>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000649869.1:n.152+31553G>T (RMI2) | ||
ENST00000312511.3:c.-93C>A (PRM1) | ENSP00000310515.3:n.-93C>A | |
ENST00000572173.1:c.-515-13885G>T (RMI2) | ENSP00000461206.1:n.-515-13885G>T | |
ENST00000573910.1:n.160+31553G>T (RMI2) | ||
NM_002761.2:c.-93C>A (PRM1) | NP_002752.1:n.-93C>A | |
XR_933070.1:n.733+31553G>T | ||
XR_933070.3:n.876+31553G>T |