Linked Data
ClinVar Variation Id:
2256665
ClinVar RCV Id:
RCV002763580
dbSNP Id:
rs760644649
ExAC:
14:68066898 G / A
gnomAD v2:
14-68066898-G-A
gnomAD v3:
14-67600181-G-A
gnomAD v4:
14-67600181-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67600181G>A , CM000676.2:g.67600181G>A | GRCh38 |
| NC_000014.8:g.68066898G>A , CM000676.1:g.68066898G>A | GRCh37 |
| NC_000014.7:g.67136651G>A | NCBI36 |
| NG_050632.2:g.5122C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216452.9:c.23C>T (PIGH) MANE Select | ENSP00000216452.4:p.Ser8Leu | |
| ENST00000216452.8:c.23C>T (PIGH) | ENSP00000216452.4:p.Ser8Leu | |
| ENST00000558001.1:c.23C>T (PIGH) | ENSP00000454061.1:p.Ser8Leu | |
| ENST00000558198.5:c.23C>T (PIGH) | ENSP00000452924.1:p.Ser8Leu | |
| ENST00000559097.1:n.106C>T (PIGH) | ||
| ENST00000559415.1:c.23C>T (PIGH) | ENSP00000452996.1:p.Ser8Leu | |
| ENST00000559581.5:c.23C>T (PIGH) | ENSP00000453733.1:p.Ser8Leu | |
| ENST00000560722.5:c.23C>T (PIGH) | ENSP00000453394.1:p.Ser8Leu | |
| ENST00000561303.5:c.23C>T (PIGH) | ENSP00000452974.1:p.Ser8Leu | |
| NM_004569.3:c.23C>T (PIGH) | NP_004560.1:p.Ser8Leu | |
| XM_006720172.2:c.16C>T (PIGH) | XP_006720235.1:p.Arg6Trp | |
| XM_011536838.1:c.23C>T (PIGH) | XP_011535140.1:p.Ser8Leu | |
| XR_943477.1:n.120C>T (PIGH) | ||
| NM_001363694.1:c.23C>T (PIGH) | NP_001350623.1:p.Ser8Leu | |
| NM_004569.4:c.23C>T (PIGH) | NP_004560.1:p.Ser8Leu | |
| XM_011536838.3:c.23C>T (PIGH) | XP_011535140.1:p.Ser8Leu | |
| XM_017020925.2:c.1313-135014G>A (GPHN) | XP_016876414.1:n.1313-135014G>A | |
| XM_017021371.2:c.23C>T (PIGH) | XP_016876860.1:p.Ser8Leu | |
| NM_004569.5:c.23C>T (PIGH) MANE Select | NP_004560.1:p.Ser8Leu |