Linked Data
ClinVar Variation Id:
1275114
ClinVar RCV Id:
RCV001679353
dbSNP Id:
rs3136814
gnomAD v2:
14-20923297-A-C
gnomAD v3:
14-20455138-A-C
gnomAD v4:
14-20455138-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20455138A>C , CM000676.2:g.20455138A>C | GRCh38 |
| NC_000014.8:g.20923297A>C , CM000676.1:g.20923297A>C | GRCh37 |
| NC_000014.7:g.19993137A>C | NCBI36 |
| NG_008718.1:g.5008A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001244249.1:c.-320A>C | NP_001231178.1:n.-320A>C | |
| NM_001641.3:c.-325A>C | NP_001632.2:n.-325A>C | |
| NM_080648.2:c.-259A>C | NP_542379.1:n.-259A>C | |
| NM_080649.2:c.-269A>C | NP_542380.1:n.-269A>C |