Linked Data
gnomAD v4:
10-94852814-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94852814T>A , CM000672.2:g.94852814T>A | GRCh38 |
| NC_000010.10:g.96612571T>A , CM000672.1:g.96612571T>A | GRCh37 |
| NC_000010.9:g.96602561T>A | NCBI36 |
| NG_008384.2:g.95109T>A | |
| NG_008384.3:g.95134T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1373T>A MANE Select | ENSP00000360372.3:p.Leu458Gln | |
| ENST00000645461.1:n.2284T>A | ||
| ENST00000371321.7:c.1373T>A | ENSP00000360372.3:p.Leu458Gln | |
| ENST00000464755.1:c.2136T>A | ENSP00000483243.1:n.2136T>A | |
| NM_000769.2:c.1373T>A | NP_000760.1:p.Leu458Gln | |
| NM_000769.4:c.1373T>A MANE Select | NP_000760.1:p.Leu458Gln |