Revel Score:
ENST00000381847
0.015
ENST00000396400 (MANE Select)
0.015
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10930757A>C , CM000674.2:g.10930757A>C | GRCh38 |
| NC_000012.11:g.11083356A>C , CM000674.1:g.11083356A>C | GRCh37 |
| NC_000012.10:g.10974623A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703543.1:c.-59+42898T>G | ENSP00000515364.1:n.-59+42898T>G | |
| ENST00000396400.4:c.196A>C (PRH2) MANE Select | ENSP00000379682.3:p.Asn66His | |
| ENST00000535024.6:c.103+42898T>G | ENSP00000481571.2:n.103+42898T>G | |
| ENST00000381847.7:c.196A>C (PRH2) | ENSP00000371271.3:p.Asn66His | |
| ENST00000396400.3:c.196A>C (PRH2) | ENSP00000379682.3:p.Asn66His | |
| ENST00000535024.5:c.103+42898T>G (PRR4) | ENSP00000481571.1:n.103+42898T>G | |
| ENST00000536086.2:n.90-38832T>G (PRH1) | ||
| ENST00000536668.2:c.176+42898T>G | ENSP00000482961.1:n.176+42898T>G | |
| ENST00000539853.5:c.-59+42898T>G (PRH1) | ENSP00000482068.1:n.-59+42898T>G | |
| ENST00000541977.5:n.359+42898T>G (PRH1) | ||
| ENST00000546317.1:n.53-35428T>G (PRR4) | ||
| NM_001110213.1:c.196A>C (PRH2) MANE Select | NP_001103683.1:p.Asn66His | |
| NM_001291314.1:c.-59+42898T>G (PRH1) | NP_001278243.1:n.-59+42898T>G | |
| NM_001291315.1:c.103+42898T>G (PRH1) | NP_001278244.1:n.103+42898T>G | |
| NM_005042.4:c.196A>C (PRH2) | NP_005033.1:p.Asn66His | |
| NR_037918.2:n.544+42898T>G | ||
| NM_001291314.2:c.-59+42898T>G (PRH1) | NP_001278243.1:n.-59+42898T>G | |
| NM_001291315.2:c.103+42898T>G (PRH1) | NP_001278244.1:n.103+42898T>G |