HGVS | Genome Assembly |
---|---|
NC_000016.10:g.11281000T>C , CM000678.2:g.11281000T>C | GRCh38 |
NC_000016.9:g.11374857T>C , CM000678.1:g.11374857T>C | GRCh37 |
NC_000016.8:g.11282358T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000312511.4:c.148A>G (PRM1) MANE Select | ENSP00000310515.3:p.Arg50Gly | |
ENST00000649869.1:n.152+31222T>C (RMI2) | ||
ENST00000312511.3:c.148A>G (PRM1) | ENSP00000310515.3:p.Arg50Gly | |
ENST00000572173.1:c.-515-14216T>C (RMI2) | ENSP00000461206.1:n.-515-14216T>C | |
ENST00000573910.1:n.160+31222T>C (RMI2) | ||
NM_002761.2:c.148A>G (PRM1) | NP_002752.1:p.Arg50Gly | |
XR_933070.1:n.733+31222T>C | ||
XR_933070.3:n.876+31222T>C | ||
NM_002761.3:c.148A>G (PRM1) MANE Select | NP_002752.1:p.Arg50Gly |