Linked Data
ClinVar Variation Id:
525078
ClinVar RCV Id:
RCV000629079
dbSNP Id:
rs995780485
gnomAD v3:
14-23422173-A-G
gnomAD v4:
14-23422173-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23422173A>G , CM000676.2:g.23422173A>G | GRCh38 |
| NC_000014.8:g.23891382A>G , CM000676.1:g.23891382A>G | GRCh37 |
| NC_000014.7:g.22961222A>G | NCBI36 |
| NG_007884.1:g.18489T>C , LRG_384:g.18489T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3245+7T>C MANE Select | ENSP00000347507.3:n.3245+7T>C | |
| ENST00000355349.3:c.3245+7T>C | ENSP00000347507.3:n.3245+7T>C | |
| NM_000257.3:c.3245+7T>C | NP_000248.2:n.3245+7T>C | |
| XR_245686.3:n.3351+7T>C | ||
| XM_017021340.1:c.3245+7T>C | XP_016876829.1:n.3245+7T>C | |
| NM_000257.4:c.3245+7T>C MANE Select | NP_000248.2:n.3245+7T>C |