Linked Data
ClinVar Variation Id:
2720839
ClinVar RCV Id:
RCV003554222
dbSNP Id:
rs531763616
ExAC:
17:37009952 T / C
gnomAD v2:
17-37009952-T-C
gnomAD v3:
17-38853699-T-C
gnomAD v4:
17-38853699-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.38853699T>C , CM000679.2:g.38853699T>C | GRCh38 |
| NC_000017.10:g.37009952T>C , CM000679.1:g.37009952T>C | GRCh37 |
| NC_000017.9:g.34263478T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000479035.7:c.12A>G MANE Select | ENSP00000420311.2:p.Arg4= | |
| ENST00000394332.5:c.12A>G | ENSP00000377865.1:p.Arg4= | |
| ENST00000394333.5:c.12A>G | ENSP00000377866.1:p.Arg4= | |
| ENST00000479035.6:c.12A>G | ENSP00000420311.2:p.Arg4= | |
| ENST00000577407.5:c.12A>G | ENSP00000462773.1:p.Arg4= | |
| ENST00000577760.1:n.66A>G | ||
| ENST00000584056.1:n.40A>G | ||
| ENST00000584912.5:n.42A>G | ||
| NM_000978.3:c.12A>G | NP_000969.1:p.Arg4= | |
| NM_000978.4:c.12A>G MANE Select | NP_000969.1:p.Arg4= |