Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11280994A>T , CM000678.2:g.11280994A>T | GRCh38 |
| NC_000016.9:g.11374851A>T , CM000678.1:g.11374851A>T | GRCh37 |
| NC_000016.8:g.11282352A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312511.4:c.154T>A (PRM1) MANE Select | ENSP00000310515.3:p.Ter52Lys | |
| ENST00000649869.1:n.152+31216A>T (RMI2) | ||
| ENST00000312511.3:c.154T>A (PRM1) | ENSP00000310515.3:p.Ter52Lys | |
| ENST00000572173.1:c.-515-14222A>T (RMI2) | ENSP00000461206.1:n.-515-14222A>T | |
| ENST00000573910.1:n.160+31216A>T (RMI2) | ||
| NM_002761.2:c.154T>A (PRM1) | NP_002752.1:p.Ter52Lys | |
| XR_933070.1:n.733+31216A>T | ||
| XR_933070.3:n.876+31216A>T | ||
| NM_002761.3:c.154T>A (PRM1) MANE Select | NP_002752.1:p.Ter52Lys |