Linked Data
dbSNP Id:
rs141690375
ExAC:
10:96612547 C / A
gnomAD v2:
10-96612547-C-A
gnomAD v4:
10-94852790-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94852790C>A , CM000672.2:g.94852790C>A | GRCh38 |
| NC_000010.10:g.96612547C>A , CM000672.1:g.96612547C>A | GRCh37 |
| NC_000010.9:g.96602537C>A | NCBI36 |
| NG_008384.2:g.95085C>A | |
| NG_008384.3:g.95110C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1349C>A MANE Select | ENSP00000360372.3:p.Thr450Asn | |
| ENST00000645461.1:n.2260C>A | ||
| ENST00000371321.7:c.1349C>A | ENSP00000360372.3:p.Thr450Asn | |
| ENST00000464755.1:c.2112C>A | ENSP00000483243.1:n.2112C>A | |
| NM_000769.2:c.1349C>A | NP_000760.1:p.Thr450Asn | |
| NM_000769.4:c.1349C>A MANE Select | NP_000760.1:p.Thr450Asn |