Linked Data
dbSNP Id:
rs542286763
gnomAD v2:
16-11375207-C-T
gnomAD v3:
16-11281350-C-T
gnomAD v4:
16-11281350-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11281350C>T , CM000678.2:g.11281350C>T | GRCh38 |
| NC_000016.9:g.11375207C>T , CM000678.1:g.11375207C>T | GRCh37 |
| NC_000016.8:g.11282708C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649869.1:n.152+31572C>T (RMI2) | ||
| ENST00000312511.3:c.-112G>A (PRM1) | ENSP00000310515.3:n.-112G>A | |
| ENST00000572173.1:c.-515-13866C>T (RMI2) | ENSP00000461206.1:n.-515-13866C>T | |
| ENST00000573910.1:n.160+31572C>T (RMI2) | ||
| XR_933070.1:n.733+31572C>T | ||
| XR_933070.3:n.876+31572C>T |