Linked Data
ClinVar Variation Id:
1643164
ClinVar RCV Id:
RCV002145797
dbSNP Id:
rs1426471331
gnomAD v2:
9-123725158-A-C
gnomAD v3:
9-120962880-A-C
gnomAD v4:
9-120962880-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120962880A>C , CM000671.2:g.120962880A>C | GRCh38 |
| NC_000009.11:g.123725158A>C , CM000671.1:g.123725158A>C | GRCh37 |
| NC_000009.10:g.122764979A>C | NCBI36 |
| NG_007364.1:g.92397T>G , LRG_28:g.92397T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.1432+13T>G | ||
| ENST00000696279.1:c.4718+13T>G | ||
| ENST00000696280.1:n.4487+13T>G | ||
| ENST00000696281.1:c.4416+13T>G | ENSP00000512521.1:n.4416+13T>G | |
| ENST00000697921.1:n.3276+13T>G | ||
| ENST00000697922.1:c.*4388+13T>G | ENSP00000513478.1:n.*4388+13T>G | |
| ENST00000697923.1:n.4843+13T>G | ||
| ENST00000223642.3:c.4398+13T>G MANE Select | ENSP00000223642.1:n.4398+13T>G | |
| ENST00000223642.2:c.4398+13T>G | ENSP00000223642.1:n.4398+13T>G | |
| NM_001735.2:c.4398+13T>G , LRG_28t1:c.4398+13T>G | NP_001726.2:n.4398+13T>G | |
| XM_011518980.1:c.4413+13T>G | XP_011517282.1:n.4413+13T>G | |
| NM_001317163.1:c.4416+13T>G | NP_001304092.1:n.4416+13T>G | |
| NM_001317163.2:c.4416+13T>G | NP_001304092.1:n.4416+13T>G | |
| NM_001735.3:c.4398+13T>G MANE Select | NP_001726.2:n.4398+13T>G |