Linked Data
ClinVar Variation Id:
180366
dbSNP Id:
rs113068438
ExAC:
20:61050570 T / C
gnomAD v2:
20-61050570-T-C
gnomAD v3:
20-62475514-T-C
gnomAD v4:
20-62475514-T-C
PubMed:
PMID:22641149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62475514T>C , CM000682.2:g.62475514T>C | GRCh38 |
| NC_000020.10:g.61050570T>C , CM000682.1:g.61050570T>C | GRCh37 |
| NC_000020.9:g.60483965T>C | NCBI36 |
| NG_046963.1:g.5457A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252997.3:c.8A>G MANE Select | ENSP00000252997.2:p.Gln3Arg | |
| ENST00000252997.2:c.8A>G | ENSP00000252997.2:p.Gln3Arg | |
| NM_080473.4:c.8A>G | NP_536721.1:p.Gln3Arg | |
| XM_006723699.2:c.8A>G | XP_006723762.1:p.Gln3Arg | |
| XM_006723699.3:c.8A>G | XP_006723762.1:p.Gln3Arg | |
| NM_080473.5:c.8A>G MANE Select | NP_536721.1:p.Gln3Arg |