Linked Data
ClinVar Variation Id:
925766
dbSNP Id:
rs769299791
ExAC:
2:21238350 T / C
gnomAD v2:
2-21238350-T-C
gnomAD v3:
2-21015478-T-C
gnomAD v4:
2-21015478-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21015478T>C , CM000664.2:g.21015478T>C | GRCh38 |
| NC_000002.11:g.21238350T>C , CM000664.1:g.21238350T>C | GRCh37 |
| NC_000002.10:g.21091855T>C | NCBI36 |
| NG_011793.1:g.33596A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*2706A>G | ENSP00000501110.2:n.*2706A>G | |
| ENST00000673882.2:c.*2495A>G | ENSP00000501253.2:n.*2495A>G | |
| ENST00000673739.1:c.3114A>G | ENSP00000501110.1:n.3114A>G | |
| ENST00000673882.1:c.2903A>G | ENSP00000501253.1:n.2903A>G | |
| ENST00000233242.5:c.3400A>G MANE Select | ENSP00000233242.1:p.Arg1134Gly | |
| ENST00000616098.4:c.3400A>G | ENSP00000477990.1:p.Arg1134Gly | |
| NM_000384.2:c.3400A>G | NP_000375.2:p.Arg1134Gly | |
| XM_011532809.1:c.3400A>G | XP_011531111.1:p.Arg1134Gly | |
| NM_000384.3:c.3400A>G MANE Select | NP_000375.3:p.Arg1134Gly |