Linked Data
ClinVar Variation Id:
2083263
ClinVar RCV Id:
RCV003002398
dbSNP Id:
rs143632019
ExAC:
10:48389275 G / C
gnomAD v2:
10-48389275-G-C
gnomAD v4:
10-47350087-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350087C>G , CM000672.2:g.47350087C>G | GRCh38 |
| NC_000010.10:g.48389275G>C , CM000672.1:g.48389275G>C | GRCh37 |
| NC_000010.9:g.48009281G>C | NCBI36 |
| NG_029718.1:g.6717C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1603C>G MANE Select | ENSP00000463151.1:p.Arg535Gly | |
| ENST00000584701.1:c.1603C>G | ENSP00000463151.1:p.Arg535Gly | |
| NM_002900.2:c.1603C>G | NP_002891.1:p.Arg535Gly | |
| NM_002900.3:c.1603C>G MANE Select | NP_002891.1:p.Arg535Gly |