Linked Data
ClinVar Variation Id:
378608
ClinVar RCV Id:
RCV000435433
dbSNP Id:
rs1057520371
gnomAD v3:
1-42929786-G-A
gnomAD v4:
1-42929786-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929786G>A , CM000663.2:g.42929786G>A | GRCh38 |
| NC_000001.10:g.43395457G>A , CM000663.1:g.43395457G>A | GRCh37 |
| NC_000001.9:g.43168044G>A | NCBI36 |
| NG_008232.1:g.34391C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.680-6C>T MANE Select | ENSP00000416293.2:n.680-6C>T | |
| ENST00000669445.1:c.57-53C>T | ||
| ENST00000674765.1:c.680-6C>T | ENSP00000501811.1:n.680-6C>T | |
| ENST00000675112.1:n.703-6C>T | ||
| ENST00000676254.1:n.1129-6C>T | ||
| ENST00000426263.7:c.680-6C>T | ENSP00000416293.2:n.680-6C>T | |
| ENST00000439722.2:c.559-6C>T | ENSP00000395521.2:n.559-6C>T | |
| ENST00000475162.3:c.415+840C>T | ||
| ENST00000630287.2:c.517-6C>T | ENSP00000486694.1:n.517-6C>T | |
| NM_006516.2:c.680-6C>T | NP_006507.2:n.680-6C>T | |
| NM_006516.3:c.680-6C>T | NP_006507.2:n.680-6C>T | |
| NM_006516.4:c.680-6C>T MANE Select | NP_006507.2:n.680-6C>T |