Linked Data
ClinVar Variation Id:
1713573
ClinVar RCV Id:
RCV002302968
dbSNP Id:
rs753032286
ExAC:
1:216420148 T / C
gnomAD v2:
1-216420148-T-C
gnomAD v4:
1-216246806-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216246806T>C , CM000663.2:g.216246806T>C | GRCh38 |
| NC_000001.10:g.216420148T>C , CM000663.1:g.216420148T>C | GRCh37 |
| NC_000001.9:g.214486771T>C | NCBI36 |
| NG_009497.1:g.181591A>G | |
| NG_009497.2:g.181643A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.2588A>G MANE Select | ENSP00000305941.3:p.Lys863Arg | |
| ENST00000674083.1:c.2588A>G | ENSP00000501296.1:p.Lys863Arg | |
| ENST00000307340.7:c.2588A>G | ENSP00000305941.3:p.Lys863Arg | |
| ENST00000366942.3:c.2588A>G | ENSP00000355909.3:p.Lys863Arg | |
| NM_007123.5:c.2588A>G | NP_009054.5:p.Lys863Arg | |
| NM_206933.2:c.2588A>G | NP_996816.2:p.Lys863Arg | |
| NM_206933.3:c.2588A>G | NP_996816.2:p.Lys863Arg | |
| NM_007123.6:c.2588A>G | NP_009054.6:p.Lys863Arg | |
| NM_206933.4:c.2588A>G MANE Select | NP_996816.3:p.Lys863Arg |