Linked Data
ClinVar Variation Id:
293722
dbSNP Id:
rs886045568
gnomAD v4:
1-171652388-T-C
ERepo:
CA10608781/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652388T>C , CM000663.2:g.171652388T>C | GRCh38 |
| NC_000001.10:g.171621528T>C , CM000663.1:g.171621528T>C | GRCh37 |
| NC_000001.9:g.169888151T>C | NCBI36 |
| NG_008859.1:g.5246A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000037502.11:c.224A>G MANE Select | ENSP00000037502.5:p.Gln75Arg | |
| ENST00000638471.1:c.130+94A>G | ENSP00000491206.1:n.130+94A>G | |
| ENST00000037502.10:c.224A>G | ENSP00000037502.5:p.Gln75Arg | |
| ENST00000614688.1:c.224A>G | ENSP00000478680.1:p.Gln75Arg | |
| NM_000261.1:c.224A>G | NP_000252.1:p.Gln75Arg | |
| NM_000261.2:c.224A>G MANE Select | NP_000252.1:p.Gln75Arg |