Linked Data
dbSNP Id:
rs76162029
gnomAD v2:
16-11375166-C-T
gnomAD v3:
16-11281309-C-T
gnomAD v4:
16-11281309-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11281309C>T , CM000678.2:g.11281309C>T | GRCh38 |
| NC_000016.9:g.11375166C>T , CM000678.1:g.11375166C>T | GRCh37 |
| NC_000016.8:g.11282667C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312511.4:c.-71G>A (PRM1) MANE Select | ENSP00000310515.3:n.-71G>A | |
| ENST00000649869.1:n.152+31531C>T (RMI2) | ||
| ENST00000312511.3:c.-71G>A (PRM1) | ENSP00000310515.3:n.-71G>A | |
| ENST00000572173.1:c.-515-13907C>T (RMI2) | ENSP00000461206.1:n.-515-13907C>T | |
| ENST00000573910.1:n.160+31531C>T (RMI2) | ||
| NM_002761.2:c.-71G>A (PRM1) | NP_002752.1:n.-71G>A | |
| XR_933070.1:n.733+31531C>T | ||
| XR_933070.3:n.876+31531C>T | ||
| NM_002761.3:c.-71G>A (PRM1) MANE Select | NP_002752.1:n.-71G>A |