Linked Data
ClinVar Variation Id:
630409
ClinVar RCV Id:
RCV003166059
dbSNP Id:
rs772402035
gnomAD v3:
2-21011361-A-C
gnomAD v4:
2-21011361-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21011361A>C , CM000664.2:g.21011361A>C | GRCh38 |
| NC_000002.11:g.21234233A>C , CM000664.1:g.21234233A>C | GRCh37 |
| NC_000002.10:g.21087738A>C | NCBI36 |
| NG_011793.1:g.37713T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*4813T>G | ENSP00000501110.2:n.*4813T>G | |
| ENST00000673739.1:c.5221T>G | ENSP00000501110.1:n.5221T>G | |
| ENST00000233242.5:c.5507T>G MANE Select | ENSP00000233242.1:p.Ile1836Arg | |
| ENST00000616098.4:c.5507T>G | ENSP00000477990.1:p.Ile1836Arg | |
| NM_000384.2:c.5507T>G | NP_000375.2:p.Ile1836Arg | |
| XM_011532809.1:c.5507T>G | XP_011531111.1:p.Ile1836Arg | |
| NM_000384.3:c.5507T>G MANE Select | NP_000375.3:p.Ile1836Arg |