Linked Data
ClinVar Variation Id:
161623
ClinVar RCV Id:
RCV000149159
dbSNP Id:
rs193920948
COSMIC:
COSM1178704
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67592638G>C , CM000676.2:g.67592638G>C | GRCh38 |
| NC_000014.8:g.68059355G>C , CM000676.1:g.68059355G>C | GRCh37 |
| NC_000014.7:g.67129108G>C | NCBI36 |
| NG_050632.2:g.12665C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216452.9:c.471C>G (PIGH) MANE Select | ENSP00000216452.4:p.Phe157Leu | |
| ENST00000216452.8:c.471C>G (PIGH) | ENSP00000216452.4:p.Phe157Leu | |
| ENST00000558001.1:c.*214C>G (PIGH) | ENSP00000454061.1:n.*214C>G | |
| ENST00000558198.5:c.*133+1105C>G (PIGH) | ENSP00000452924.1:n.*133+1105C>G | |
| ENST00000558493.1:c.319+1105C>G (PIGH) | ||
| ENST00000558987.5:c.257C>G (PIGH) | ||
| ENST00000559118.1:n.139C>G (PIGH) | ||
| ENST00000559415.1:c.375C>G (PIGH) | ENSP00000452996.1:p.Phe125Leu | |
| ENST00000559581.5:c.354C>G (PIGH) | ENSP00000453733.1:p.Phe118Leu | |
| ENST00000560722.5:c.468C>G (PIGH) | ENSP00000453394.1:p.Phe156Leu | |
| ENST00000561272.5:c.437C>G (PIGH) | ||
| ENST00000561303.5:c.*84C>G (PIGH) | ENSP00000452974.1:n.*84C>G | |
| NM_004569.3:c.471C>G (PIGH) | NP_004560.1:p.Phe157Leu | |
| XM_006720172.2:c.459C>G (PIGH) | XP_006720235.1:p.Phe153Leu | |
| XM_011536838.1:c.471C>G (PIGH) | XP_011535140.1:p.Phe157Leu | |
| XR_943477.1:n.583C>G (PIGH) | ||
| NM_001363694.1:c.468C>G (PIGH) | NP_001350623.1:p.Phe156Leu | |
| NM_004569.4:c.471C>G (PIGH) | NP_004560.1:p.Phe157Leu | |
| XM_011536838.3:c.471C>G (PIGH) | XP_011535140.1:p.Phe157Leu | |
| XM_017020925.2:c.1313-142557G>C (GPHN) | XP_016876414.1:n.1313-142557G>C | |
| XM_017021371.2:c.468C>G (PIGH) | XP_016876860.1:p.Phe156Leu | |
| NM_004569.5:c.471C>G (PIGH) MANE Select | NP_004560.1:p.Phe157Leu |