Linked Data
ClinVar Variation Id:
3028047
ClinVar RCV Id:
RCV003889417
dbSNP Id:
rs757295586
ExAC:
8:10470303 A / C
gnomAD v2:
8-10470303-A-C
gnomAD v4:
8-10612793-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612793A>C , CM000670.2:g.10612793A>C | GRCh38 |
| NC_000008.10:g.10470303A>C , CM000670.1:g.10470303A>C | GRCh37 |
| NC_000008.9:g.10507713A>C | NCBI36 |
| NG_028035.1:g.47315T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1305T>G MANE Select | ENSP00000371923.3:p.Ser435Arg | |
| ENST00000382483.3:c.1305T>G | ENSP00000371923.3:p.Ser435Arg | |
| NM_178857.5:c.1305T>G | NP_849188.4:p.Ser435Arg | |
| NM_178857.6:c.1305T>G MANE Select | NP_849188.4:p.Ser435Arg |