Linked Data
dbSNP Id:
rs1267370707
gnomAD v2:
2-68880219-C-T
gnomAD v3:
2-68653087-C-T
gnomAD v4:
2-68653087-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.68653087C>T , CM000664.2:g.68653087C>T | GRCh38 |
| NC_000002.11:g.68880219C>T , CM000664.1:g.68880219C>T | GRCh37 |
| NC_000002.10:g.68733723C>T | NCBI36 |
| NG_051312.1:g.14500C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303786.5:c.486-1793C>T (PROKR1) MANE Select | ENSP00000303775.4:n.486-1793C>T | |
| ENST00000303786.4:c.486-1793C>T (PROKR1) | ENSP00000303775.3:n.486-1793C>T | |
| ENST00000394342.2:c.486-1793C>T (APLF) | ENSP00000377874.2:n.486-1793C>T | |
| ENST00000627740.1:n.1198-1793C>T (APLF) | ||
| NM_138964.2:c.486-1793C>T (PROKR1) | NP_620414.1:n.486-1793C>T | |
| NM_138964.3:c.486-1793C>T (PROKR1) | NP_620414.1:n.486-1793C>T | |
| NM_138964.4:c.486-1793C>T (PROKR1) MANE Select | NP_620414.1:n.486-1793C>T |