HGVS | Genome Assembly |
---|---|
NC_000016.10:g.11281158C>G , CM000678.2:g.11281158C>G | GRCh38 |
NC_000016.9:g.11375015C>G , CM000678.1:g.11375015C>G | GRCh37 |
NC_000016.8:g.11282516C>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000312511.4:c.81G>C (PRM1) MANE Select | ENSP00000310515.3:p.Arg27Ser | |
ENST00000649869.1:n.152+31380C>G (RMI2) | ||
ENST00000312511.3:c.81G>C (PRM1) | ENSP00000310515.3:p.Arg27Ser | |
ENST00000572173.1:c.-515-14058C>G (RMI2) | ENSP00000461206.1:n.-515-14058C>G | |
ENST00000573910.1:n.160+31380C>G (RMI2) | ||
NM_002761.2:c.81G>C (PRM1) | NP_002752.1:p.Arg27Ser | |
XR_933070.1:n.733+31380C>G | ||
XR_933070.3:n.876+31380C>G | ||
NM_002761.3:c.81G>C (PRM1) MANE Select | NP_002752.1:p.Arg27Ser |