Linked Data
gnomAD v4:
10-94781860-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781860G>A , CM000672.2:g.94781860G>A | GRCh38 |
| NC_000010.10:g.96541617G>A , CM000672.1:g.96541617G>A | GRCh37 |
| NC_000010.9:g.96531607G>A | NCBI36 |
| NG_008384.2:g.24155G>A | |
| NG_008384.3:g.24180G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.682G>A MANE Select | ENSP00000360372.3:p.Gly228Arg | |
| ENST00000645461.1:n.1735G>A | ||
| ENST00000371321.7:c.682G>A | ENSP00000360372.3:p.Gly228Arg | |
| ENST00000464755.1:c.1445G>A | ENSP00000483243.1:n.1445G>A | |
| NM_000769.2:c.682G>A | NP_000760.1:p.Gly228Arg | |
| NM_000769.4:c.682G>A MANE Select | NP_000760.1:p.Gly228Arg |