Linked Data
dbSNP Id:
rs748209880
ExAC:
16:11375110 T / G
gnomAD v2:
16-11375110-T-G
gnomAD v4:
16-11281253-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11281253T>G , CM000678.2:g.11281253T>G | GRCh38 |
| NC_000016.9:g.11375110T>G , CM000678.1:g.11375110T>G | GRCh37 |
| NC_000016.8:g.11282611T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312511.4:c.-15A>C (PRM1) MANE Select | ENSP00000310515.3:n.-15A>C | |
| ENST00000649869.1:n.152+31475T>G (RMI2) | ||
| ENST00000312511.3:c.-15A>C (PRM1) | ENSP00000310515.3:n.-15A>C | |
| ENST00000572173.1:c.-515-13963T>G (RMI2) | ENSP00000461206.1:n.-515-13963T>G | |
| ENST00000573910.1:n.160+31475T>G (RMI2) | ||
| NM_002761.2:c.-15A>C (PRM1) | NP_002752.1:n.-15A>C | |
| XR_933070.1:n.733+31475T>G | ||
| XR_933070.3:n.876+31475T>G | ||
| NM_002761.3:c.-15A>C (PRM1) MANE Select | NP_002752.1:n.-15A>C |