Linked Data
ClinVar Variation Id:
2541256
ClinVar RCV Id:
RCV003281837
dbSNP Id:
rs773335993
gnomAD v3:
14-67593897-T-C
gnomAD v4:
14-67593897-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67593897T>C , CM000676.2:g.67593897T>C | GRCh38 |
| NC_000014.8:g.68060614T>C , CM000676.1:g.68060614T>C | GRCh37 |
| NC_000014.7:g.67130367T>C | NCBI36 |
| NG_050632.2:g.11406A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216452.9:c.236A>G (PIGH) MANE Select | ENSP00000216452.4:p.Tyr79Cys | |
| ENST00000216452.8:c.236A>G (PIGH) | ENSP00000216452.4:p.Tyr79Cys | |
| ENST00000558001.1:c.231A>G (PIGH) | ENSP00000454061.1:p.Leu77= | |
| ENST00000558198.5:c.231A>G (PIGH) | ENSP00000452924.1:p.Leu77= | |
| ENST00000558493.1:c.165A>G (PIGH) | ||
| ENST00000558987.5:c.22A>G (PIGH) | ||
| ENST00000559097.1:n.319A>G (PIGH) | ||
| ENST00000559415.1:c.223+13A>G (PIGH) | ENSP00000452996.1:n.223+13A>G | |
| ENST00000559581.5:c.181-62A>G (PIGH) | ENSP00000453733.1:n.181-62A>G | |
| ENST00000560722.5:c.236A>G (PIGH) | ENSP00000453394.1:p.Tyr79Cys | |
| ENST00000561272.5:c.202A>G (PIGH) | ||
| ENST00000561303.5:c.236A>G (PIGH) | ENSP00000452974.1:p.Tyr79Cys | |
| NM_004569.3:c.236A>G (PIGH) | NP_004560.1:p.Tyr79Cys | |
| XM_006720172.2:c.224A>G (PIGH) | XP_006720235.1:p.Tyr75Cys | |
| XM_011536838.1:c.236A>G (PIGH) | XP_011535140.1:p.Tyr79Cys | |
| XR_943477.1:n.333A>G (PIGH) | ||
| NM_001363694.1:c.236A>G (PIGH) | NP_001350623.1:p.Tyr79Cys | |
| NM_004569.4:c.236A>G (PIGH) | NP_004560.1:p.Tyr79Cys | |
| XM_011536838.3:c.236A>G (PIGH) | XP_011535140.1:p.Tyr79Cys | |
| XM_017020925.2:c.1313-141298T>C (GPHN) | XP_016876414.1:n.1313-141298T>C | |
| XM_017021371.2:c.236A>G (PIGH) | XP_016876860.1:p.Tyr79Cys | |
| NM_004569.5:c.236A>G (PIGH) MANE Select | NP_004560.1:p.Tyr79Cys |