HGVS | Genome Assembly |
---|---|
NC_000016.10:g.11280965G>A , CM000678.2:g.11280965G>A | GRCh38 |
NC_000016.9:g.11374822G>A , CM000678.1:g.11374822G>A | GRCh37 |
NC_000016.8:g.11282323G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000312511.4:c.*27C>T (PRM1) MANE Select | ENSP00000310515.3:n.*27C>T | |
ENST00000649869.1:n.152+31187G>A (RMI2) | ||
ENST00000312511.3:c.*27C>T (PRM1) | ENSP00000310515.3:n.*27C>T | |
ENST00000572173.1:c.-515-14251G>A (RMI2) | ENSP00000461206.1:n.-515-14251G>A | |
ENST00000573910.1:n.160+31187G>A (RMI2) | ||
NM_002761.2:c.*27C>T (PRM1) | NP_002752.1:n.*27C>T | |
XR_933070.1:n.733+31187G>A | ||
XR_933070.3:n.876+31187G>A | ||
NM_002761.3:c.*27C>T (PRM1) MANE Select | NP_002752.1:n.*27C>T |