Linked Data
gnomAD v4:
2-5692864-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.5692864A>G , CM000664.2:g.5692864A>G | GRCh38 |
| NC_000002.11:g.5832996A>G , CM000664.1:g.5832996A>G | GRCh37 |
| NC_000002.10:g.5750447A>G | NCBI36 |
| NG_050751.1:g.5198A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322002.5:c.143A>G MANE Select | ENSP00000322568.3:p.His48Arg | |
| ENST00000322002.4:c.143A>G | ENSP00000322568.3:p.His48Arg | |
| NM_003108.3:c.143A>G | NP_003099.1:p.His48Arg | |
| NM_003108.4:c.143A>G MANE Select | NP_003099.1:p.His48Arg |