Linked Data
dbSNP Id:
rs1316371979
gnomAD v2:
16-11374995-C-T
gnomAD v3:
16-11281138-C-T
gnomAD v4:
16-11281138-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11281138C>T , CM000678.2:g.11281138C>T | GRCh38 |
| NC_000016.9:g.11374995C>T , CM000678.1:g.11374995C>T | GRCh37 |
| NC_000016.8:g.11282496C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000312511.4:c.101G>A (PRM1) MANE Select | ENSP00000310515.3:p.Arg34Lys | |
| ENST00000649869.1:n.152+31360C>T (RMI2) | ||
| ENST00000312511.3:c.101G>A (PRM1) | ENSP00000310515.3:p.Arg34Lys | |
| ENST00000572173.1:c.-515-14078C>T (RMI2) | ENSP00000461206.1:n.-515-14078C>T | |
| ENST00000573910.1:n.160+31360C>T (RMI2) | ||
| NM_002761.2:c.101G>A (PRM1) | NP_002752.1:p.Arg34Lys | |
| XR_933070.1:n.733+31360C>T | ||
| XR_933070.3:n.876+31360C>T | ||
| NM_002761.3:c.101G>A (PRM1) MANE Select | NP_002752.1:p.Arg34Lys |