Linked Data
dbSNP Id:
rs1226643425
gnomAD v2:
16-11374999-G-A
gnomAD v3:
16-11281142-G-A
gnomAD v4:
16-11281142-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11281142G>A , CM000678.2:g.11281142G>A | GRCh38 |
| NC_000016.9:g.11374999G>A , CM000678.1:g.11374999G>A | GRCh37 |
| NC_000016.8:g.11282500G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000312511.4:c.97C>T (PRM1) MANE Select | ENSP00000310515.3:p.Arg33Trp | |
| ENST00000649869.1:n.152+31364G>A (RMI2) | ||
| ENST00000312511.3:c.97C>T (PRM1) | ENSP00000310515.3:p.Arg33Trp | |
| ENST00000572173.1:c.-515-14074G>A (RMI2) | ENSP00000461206.1:n.-515-14074G>A | |
| ENST00000573910.1:n.160+31364G>A (RMI2) | ||
| NM_002761.2:c.97C>T (PRM1) | NP_002752.1:p.Arg33Trp | |
| XR_933070.1:n.733+31364G>A | ||
| XR_933070.3:n.876+31364G>A | ||
| NM_002761.3:c.97C>T (PRM1) MANE Select | NP_002752.1:p.Arg33Trp |