Linked Data
ClinVar Variation Id:
943804
ClinVar RCV Id:
RCV001214071
RCV002287482
RCV003446652
RCV003163632
RCV003446650
RCV003446649
RCV003446651
dbSNP Id:
rs987202561
gnomAD v3:
1-42930750-A-G
gnomAD v4:
1-42930750-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930750A>G , CM000663.2:g.42930750A>G | GRCh38 |
| NC_000001.10:g.43396421A>G , CM000663.1:g.43396421A>G | GRCh37 |
| NC_000001.9:g.43169008A>G | NCBI36 |
| NG_008232.1:g.33427T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.392T>C MANE Select | ENSP00000416293.2:p.Val131Ala | |
| ENST00000674765.1:c.392T>C | ENSP00000501811.1:p.Val131Ala | |
| ENST00000675112.1:n.415T>C | ||
| ENST00000676254.1:n.841T>C | ||
| ENST00000372500.4:c.296T>C | ENSP00000361578.4:p.Val99Ala | |
| ENST00000426263.7:c.392T>C | ENSP00000416293.2:p.Val131Ala | |
| ENST00000439722.2:c.271T>C | ENSP00000395521.2:n.271T>C | |
| ENST00000475162.3:c.291T>C | ||
| ENST00000625233.2:n.600T>C | ||
| ENST00000630287.2:c.392T>C | ENSP00000486694.1:p.Val131Ala | |
| NM_006516.2:c.392T>C | NP_006507.2:p.Val131Ala | |
| NM_006516.3:c.392T>C | NP_006507.2:p.Val131Ala | |
| NM_006516.4:c.392T>C MANE Select | NP_006507.2:p.Val131Ala |