Linked Data
ClinVar Variation Id:
3045133
ClinVar RCV Id:
RCV003942239
dbSNP Id:
rs201381653
ExAC:
14:68066756 G / T
gnomAD v2:
14-68066756-G-T
gnomAD v3:
14-67600039-G-T
gnomAD v4:
14-67600039-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67600039G>T , CM000676.2:g.67600039G>T | GRCh38 |
| NC_000014.8:g.68066756G>T , CM000676.1:g.68066756G>T | GRCh37 |
| NC_000014.7:g.67136509G>T | NCBI36 |
| NG_050632.2:g.5264C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216452.9:c.165C>A (PIGH) MANE Select | ENSP00000216452.4:p.Leu55= | |
| ENST00000216452.8:c.165C>A (PIGH) | ENSP00000216452.4:p.Leu55= | |
| ENST00000558001.1:c.165C>A (PIGH) | ENSP00000454061.1:p.Leu55= | |
| ENST00000558198.5:c.165C>A (PIGH) | ENSP00000452924.1:p.Leu55= | |
| ENST00000558493.1:c.94C>A (PIGH) | ||
| ENST00000559097.1:n.248C>A (PIGH) | ||
| ENST00000559415.1:c.165C>A (PIGH) | ENSP00000452996.1:p.Leu55= | |
| ENST00000559581.5:c.165C>A (PIGH) | ENSP00000453733.1:p.Leu55= | |
| ENST00000560722.5:c.165C>A (PIGH) | ENSP00000453394.1:p.Leu55= | |
| ENST00000561272.5:c.131C>A (PIGH) | ||
| ENST00000561303.5:c.165C>A (PIGH) | ENSP00000452974.1:p.Leu55= | |
| NM_004569.3:c.165C>A (PIGH) | NP_004560.1:p.Leu55= | |
| XM_006720172.2:c.158C>A (PIGH) | XP_006720235.1:p.Ser53Tyr | |
| XM_011536838.1:c.165C>A (PIGH) | XP_011535140.1:p.Leu55= | |
| XR_943477.1:n.262C>A (PIGH) | ||
| NM_001363694.1:c.165C>A (PIGH) | NP_001350623.1:p.Leu55= | |
| NM_004569.4:c.165C>A (PIGH) | NP_004560.1:p.Leu55= | |
| XM_011536838.3:c.165C>A (PIGH) | XP_011535140.1:p.Leu55= | |
| XM_017020925.2:c.1313-135156G>T (GPHN) | XP_016876414.1:n.1313-135156G>T | |
| XM_017021371.2:c.165C>A (PIGH) | XP_016876860.1:p.Leu55= | |
| NM_004569.5:c.165C>A (PIGH) MANE Select | NP_004560.1:p.Leu55= |