Revel Score:
ENST00000216452 (MANE Select)
0.250
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003505 (NFE)
Exomes Max Group AF
0.00003633 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67593826A>G , CM000676.2:g.67593826A>G | GRCh38 |
| NC_000014.8:g.68060543A>G , CM000676.1:g.68060543A>G | GRCh37 |
| NC_000014.7:g.67130296A>G | NCBI36 |
| NG_050632.2:g.11477T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216452.9:c.307T>C (PIGH) MANE Select | ENSP00000216452.4:p.Ser103Pro | |
| ENST00000216452.8:c.307T>C (PIGH) | ENSP00000216452.4:p.Ser103Pro | |
| ENST00000558001.1:c.*50T>C (PIGH) | ENSP00000454061.1:n.*50T>C | |
| ENST00000558198.5:c.*50T>C (PIGH) | ENSP00000452924.1:n.*50T>C | |
| ENST00000558493.1:c.236T>C (PIGH) | ||
| ENST00000558987.5:c.93T>C (PIGH) | ||
| ENST00000559097.1:n.390T>C (PIGH) | ||
| ENST00000559415.1:c.224-13T>C (PIGH) | ENSP00000452996.1:n.224-13T>C | |
| ENST00000559581.5:c.190T>C (PIGH) | ENSP00000453733.1:p.Ser64Pro | |
| ENST00000560722.5:c.307T>C (PIGH) | ENSP00000453394.1:p.Ser103Pro | |
| ENST00000561272.5:c.273T>C (PIGH) | ||
| ENST00000561303.5:c.307T>C (PIGH) | ENSP00000452974.1:p.Ser103Pro | |
| NM_004569.3:c.307T>C (PIGH) | NP_004560.1:p.Ser103Pro | |
| XM_006720172.2:c.295T>C (PIGH) | XP_006720235.1:p.Ser99Pro | |
| XM_011536838.1:c.307T>C (PIGH) | XP_011535140.1:p.Ser103Pro | |
| XR_943477.1:n.404T>C (PIGH) | ||
| NM_001363694.1:c.307T>C (PIGH) | NP_001350623.1:p.Ser103Pro | |
| NM_004569.4:c.307T>C (PIGH) | NP_004560.1:p.Ser103Pro | |
| XM_011536838.3:c.307T>C (PIGH) | XP_011535140.1:p.Ser103Pro | |
| XM_017020925.2:c.1313-141369A>G (GPHN) | XP_016876414.1:n.1313-141369A>G | |
| XM_017021371.2:c.307T>C (PIGH) | XP_016876860.1:p.Ser103Pro | |
| NM_004569.5:c.307T>C (PIGH) MANE Select | NP_004560.1:p.Ser103Pro |