Linked Data
ClinVar Variation Id:
3207842
ClinVar RCV Id:
RCV004497684
dbSNP Id:
rs142016147
ExAC:
4:135121886 T / G
gnomAD v2:
4-135121886-T-G
gnomAD v3:
4-134200731-T-G
gnomAD v4:
4-134200731-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.134200731T>G , CM000666.2:g.134200731T>G | GRCh38 |
| NC_000004.11:g.135121886T>G , CM000666.1:g.135121886T>G | GRCh37 |
| NC_000004.10:g.135341336T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421491.4:c.289A>C MANE Select | ENSP00000463233.1:p.Ile97Leu | |
| ENST00000421491.3:c.289A>C | ENSP00000463233.1:p.Ile97Leu | |
| NM_001114734.1:c.463A>C | NP_001108206.2:p.Ile155Leu | |
| NM_001114734.2:c.289A>C MANE Select | NP_001108206.3:p.Ile97Leu | |
| NM_001363585.1:c.289A>C | NP_001350514.1:p.Ile97Leu | |
| XR_001741133.1:n.828A>C | ||
| XR_001741134.1:n.828A>C | ||
| XR_001741135.1:n.828A>C | ||
| XR_001741136.1:n.828A>C | ||
| XR_001741137.1:n.828A>C | ||
| XR_001741138.1:n.828A>C | ||
| XR_001741139.1:n.823A>C |