Linked Data
dbSNP Id:
rs114290778
gnomAD v2:
16-11375202-C-G
gnomAD v3:
16-11281345-C-G
gnomAD v4:
16-11281345-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11281345C>G , CM000678.2:g.11281345C>G | GRCh38 |
| NC_000016.9:g.11375202C>G , CM000678.1:g.11375202C>G | GRCh37 |
| NC_000016.8:g.11282703C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649869.1:n.152+31567C>G (RMI2) | ||
| ENST00000312511.3:c.-107G>C (PRM1) | ENSP00000310515.3:n.-107G>C | |
| ENST00000572173.1:c.-515-13871C>G (RMI2) | ENSP00000461206.1:n.-515-13871C>G | |
| ENST00000573910.1:n.160+31567C>G (RMI2) | ||
| XR_933070.1:n.733+31567C>G | ||
| XR_933070.3:n.876+31567C>G |