Linked Data
ClinVar Variation Id:
514790
ClinVar RCV Id:
RCV000606335
dbSNP Id:
rs117588133
gnomAD v2:
17-57784747-T-C
gnomAD v3:
17-59707386-T-C
gnomAD v4:
17-59707386-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.59707386T>C , CM000679.2:g.59707386T>C | GRCh38 |
| NC_000017.10:g.57784747T>C , CM000679.1:g.57784747T>C | GRCh37 |
| NC_000017.9:g.55139529T>C | NCBI36 |
| NG_042064.1:g.5213A>G | |
| NG_051107.1:g.4922T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393038.3:c.-16A>G (PTRH2) MANE Select | ENSP00000376758.2:n.-16A>G | |
| ENST00000393038.2:c.-16A>G (PTRH2) | ENSP00000376758.2:n.-16A>G | |
| ENST00000409433.2:c.-1332A>G (PTRH2) | ENSP00000387180.2:n.-1332A>G | |
| ENST00000579915.1:n.55A>G (PTRH2) | ||
| ENST00000587935.1:n.30A>G (PTRH2) | ||
| ENST00000588915.1:n.81+114T>C (VMP1) | ||
| NM_001015509.2:c.-1332A>G (PTRH2) | NP_001015509.1:n.-1332A>G | |
| NM_016077.3:c.-16A>G (PTRH2) | NP_057161.1:n.-16A>G | |
| NM_016077.4:c.-16A>G (PTRH2) | NP_057161.1:n.-16A>G | |
| XM_011524887.1:c.-7A>G (PTRH2) | XP_011523189.1:n.-7A>G | |
| XM_011524887.2:c.-7A>G (PTRH2) | XP_011523189.1:n.-7A>G | |
| NM_016077.5:c.-16A>G (PTRH2) MANE Select | NP_057161.1:n.-16A>G | |
| NM_001015509.3:c.-1332A>G (PTRH2) | NP_001015509.1:n.-1332A>G |