Linked Data
ClinVar Variation Id:
2773935
ClinVar RCV Id:
RCV003532698
dbSNP Id:
rs1336792481
gnomAD v2:
14-23890263-G-C
gnomAD v4:
14-23421054-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23421054G>C , CM000676.2:g.23421054G>C | GRCh38 |
| NC_000014.8:g.23890263G>C , CM000676.1:g.23890263G>C | GRCh37 |
| NC_000014.7:g.22960103G>C | NCBI36 |
| NG_007884.1:g.19608C>G , LRG_384:g.19608C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3246-6C>G MANE Select | ENSP00000347507.3:n.3246-6C>G | |
| ENST00000355349.3:c.3246-6C>G | ENSP00000347507.3:n.3246-6C>G | |
| NM_000257.3:c.3246-6C>G | NP_000248.2:n.3246-6C>G | |
| XR_245686.3:n.3354-6C>G | ||
| XM_017021340.1:c.3246-6C>G | XP_016876829.1:n.3246-6C>G | |
| NM_000257.4:c.3246-6C>G MANE Select | NP_000248.2:n.3246-6C>G |