Linked Data
ClinVar Variation Id:
295423
dbSNP Id:
rs369357349
ExAC:
1:216348809 C / G
gnomAD v2:
1-216348809-C-G
gnomAD v3:
1-216175467-C-G
gnomAD v4:
1-216175467-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216175467C>G , CM000663.2:g.216175467C>G | GRCh38 |
| NC_000001.10:g.216348809C>G , CM000663.1:g.216348809C>G | GRCh37 |
| NC_000001.9:g.214415432C>G | NCBI36 |
| NG_009497.1:g.252930G>C | |
| NG_009497.2:g.252982G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.4412G>C MANE Select | ENSP00000305941.3:p.Arg1471Thr | |
| ENST00000674083.1:c.4412G>C | ENSP00000501296.1:p.Arg1471Thr | |
| ENST00000307340.7:c.4412G>C | ENSP00000305941.3:p.Arg1471Thr | |
| ENST00000366942.3:c.4412G>C | ENSP00000355909.3:p.Arg1471Thr | |
| NM_007123.5:c.4412G>C | NP_009054.5:p.Arg1471Thr | |
| NM_206933.2:c.4412G>C | NP_996816.2:p.Arg1471Thr | |
| NM_206933.3:c.4412G>C | NP_996816.2:p.Arg1471Thr | |
| NM_007123.6:c.4412G>C | NP_009054.6:p.Arg1471Thr | |
| NM_206933.4:c.4412G>C MANE Select | NP_996816.3:p.Arg1471Thr |