Linked Data
ClinVar Variation Id:
3056965
ClinVar RCV Id:
RCV003973923
dbSNP Id:
rs45474396
ExAC:
14:68060574 G / A
gnomAD v2:
14-68060574-G-A
gnomAD v3:
14-67593857-G-A
gnomAD v4:
14-67593857-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67593857G>A , CM000676.2:g.67593857G>A | GRCh38 |
| NC_000014.8:g.68060574G>A , CM000676.1:g.68060574G>A | GRCh37 |
| NC_000014.7:g.67130327G>A | NCBI36 |
| NG_050632.2:g.11446C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216452.9:c.276C>T (PIGH) MANE Select | ENSP00000216452.4:p.Ile92= | |
| ENST00000216452.8:c.276C>T (PIGH) | ENSP00000216452.4:p.Ile92= | |
| ENST00000558001.1:c.*19C>T (PIGH) | ENSP00000454061.1:n.*19C>T | |
| ENST00000558198.5:c.*19C>T (PIGH) | ENSP00000452924.1:n.*19C>T | |
| ENST00000558493.1:c.205C>T (PIGH) | ||
| ENST00000558987.5:c.62C>T (PIGH) | ||
| ENST00000559097.1:n.359C>T (PIGH) | ||
| ENST00000559415.1:c.224-44C>T (PIGH) | ENSP00000452996.1:n.224-44C>T | |
| ENST00000559581.5:c.181-22C>T (PIGH) | ENSP00000453733.1:n.181-22C>T | |
| ENST00000560722.5:c.276C>T (PIGH) | ENSP00000453394.1:p.Ile92= | |
| ENST00000561272.5:c.242C>T (PIGH) | ||
| ENST00000561303.5:c.276C>T (PIGH) | ENSP00000452974.1:p.Ile92= | |
| NM_004569.3:c.276C>T (PIGH) | NP_004560.1:p.Ile92= | |
| XM_006720172.2:c.264C>T (PIGH) | XP_006720235.1:p.Ile88= | |
| XM_011536838.1:c.276C>T (PIGH) | XP_011535140.1:p.Ile92= | |
| XR_943477.1:n.373C>T (PIGH) | ||
| NM_001363694.1:c.276C>T (PIGH) | NP_001350623.1:p.Ile92= | |
| NM_004569.4:c.276C>T (PIGH) | NP_004560.1:p.Ile92= | |
| XM_011536838.3:c.276C>T (PIGH) | XP_011535140.1:p.Ile92= | |
| XM_017020925.2:c.1313-141338G>A (GPHN) | XP_016876414.1:n.1313-141338G>A | |
| XM_017021371.2:c.276C>T (PIGH) | XP_016876860.1:p.Ile92= | |
| NM_004569.5:c.276C>T (PIGH) MANE Select | NP_004560.1:p.Ile92= |