HGVS | Genome Assembly |
---|---|
NC_000016.10:g.11281335C>A , CM000678.2:g.11281335C>A | GRCh38 |
NC_000016.9:g.11375192C>A , CM000678.1:g.11375192C>A | GRCh37 |
NC_000016.8:g.11282693C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000649869.1:n.152+31557C>A (RMI2) | ||
ENST00000312511.3:c.-97G>T (PRM1) | ENSP00000310515.3:n.-97G>T | |
ENST00000572173.1:c.-515-13881C>A (RMI2) | ENSP00000461206.1:n.-515-13881C>A | |
ENST00000573910.1:n.160+31557C>A (RMI2) | ||
NM_002761.2:c.-97G>T (PRM1) | NP_002752.1:n.-97G>T | |
XR_933070.1:n.733+31557C>A | ||
XR_933070.3:n.876+31557C>A |