Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11281009G>C , CM000678.2:g.11281009G>C | GRCh38 |
| NC_000016.9:g.11374866G>C , CM000678.1:g.11374866G>C | GRCh37 |
| NC_000016.8:g.11282367G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002761.3:c.139C>G (PRM1) MANE Select | NP_002752.1:p.Arg47Gly |
| ENST00000312511.4:c.139C>G (PRM1) MANE Select | ENSP00000310515.3:p.Arg47Gly |
| NM_002761.2:c.139C>G (PRM1) | NP_002752.1:p.Arg47Gly |
| ENST00000312511.3:c.139C>G (PRM1) | ENSP00000310515.3:p.Arg47Gly |
| ENST00000572173.1:c.-515-14207G>C (RMI2) | ENSP00000461206.1:n.-515-14207G>C |
| ENST00000573910.1:n.160+31231G>C (RMI2) | |
| ENST00000649869.1:n.152+31231G>C (RMI2) | |
| XR_933070.1:n.733+31231G>C | |
| XR_933070.3:n.876+31231G>C |