Linked Data
gnomAD v4:
10-94781993-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781993A>G , CM000672.2:g.94781993A>G | GRCh38 |
| NC_000010.10:g.96541750A>G , CM000672.1:g.96541750A>G | GRCh37 |
| NC_000010.9:g.96531740A>G | NCBI36 |
| NG_008384.2:g.24288A>G | |
| NG_008384.3:g.24313A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.815A>G MANE Select | ENSP00000360372.3:p.Glu272Gly | |
| ENST00000645461.1:n.1868A>G | ||
| ENST00000371321.7:c.815A>G | ENSP00000360372.3:p.Glu272Gly | |
| ENST00000464755.1:c.1578A>G | ENSP00000483243.1:n.1578A>G | |
| NM_000769.2:c.815A>G | NP_000760.1:p.Glu272Gly | |
| NM_000769.4:c.815A>G MANE Select | NP_000760.1:p.Glu272Gly |