Linked Data
ClinVar Variation Id:
1287249
ClinVar RCV Id:
RCV001708874
dbSNP Id:
rs520692
ExAC:
6:32188640 T / C
gnomAD v2:
6-32188640-T-C
gnomAD v3:
6-32220863-T-C
gnomAD v4:
6-32220863-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32220863T>C , CM000668.2:g.32220863T>C | GRCh38 |
| NC_000006.11:g.32188640T>C , CM000668.1:g.32188640T>C | GRCh37 |
| NC_000006.10:g.32296618T>C | NCBI36 |
| NG_028190.1:g.8205A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375023.3:c.815A>G MANE Select | ENSP00000364163.3:p.Asp272Gly | |
| ENST00000473562.1:n.944A>G | ||
| NM_004557.3:c.815A>G | NP_004548.3:p.Asp272Gly | |
| NR_134949.1:n.954A>G | ||
| NR_134950.1:n.954A>G | ||
| NM_004557.4:c.815A>G MANE Select | NP_004548.3:p.Asp272Gly | |
| NR_134949.2:n.954A>G | ||
| NR_134950.2:n.954A>G |