HGVS | Genome Assembly |
---|---|
NC_000016.10:g.11281147T>G , CM000678.2:g.11281147T>G | GRCh38 |
NC_000016.9:g.11375004T>G , CM000678.1:g.11375004T>G | GRCh37 |
NC_000016.8:g.11282505T>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000312511.4:c.92A>C (PRM1) MANE Select | ENSP00000310515.3:p.Gln31Pro | |
ENST00000649869.1:n.152+31369T>G (RMI2) | ||
ENST00000312511.3:c.92A>C (PRM1) | ENSP00000310515.3:p.Gln31Pro | |
ENST00000572173.1:c.-515-14069T>G (RMI2) | ENSP00000461206.1:n.-515-14069T>G | |
ENST00000573910.1:n.160+31369T>G (RMI2) | ||
NM_002761.2:c.92A>C (PRM1) | NP_002752.1:p.Gln31Pro | |
XR_933070.1:n.733+31369T>G | ||
XR_933070.3:n.876+31369T>G | ||
NM_002761.3:c.92A>C (PRM1) MANE Select | NP_002752.1:p.Gln31Pro |