gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11281009G>A , CM000678.2:g.11281009G>A | GRCh38 |
| NC_000016.9:g.11374866G>A , CM000678.1:g.11374866G>A | GRCh37 |
| NC_000016.8:g.11282367G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312511.4:c.139C>T (PRM1) MANE Select | ENSP00000310515.3:p.Arg47Ter | |
| ENST00000649869.1:n.152+31231G>A (RMI2) | ||
| ENST00000312511.3:c.139C>T (PRM1) | ENSP00000310515.3:p.Arg47Ter | |
| ENST00000572173.1:c.-515-14207G>A (RMI2) | ENSP00000461206.1:n.-515-14207G>A | |
| ENST00000573910.1:n.160+31231G>A (RMI2) | ||
| NM_002761.2:c.139C>T (PRM1) | NP_002752.1:p.Arg47Ter | |
| XR_933070.1:n.733+31231G>A | ||
| XR_933070.3:n.876+31231G>A | ||
| NM_002761.3:c.139C>T (PRM1) MANE Select | NP_002752.1:p.Arg47Ter |