Linked Data
gnomAD v4:
1-183240043-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183240043A>G , CM000663.2:g.183240043A>G | GRCh38 |
| NC_000001.10:g.183209178A>G , CM000663.1:g.183209178A>G | GRCh37 |
| NC_000001.9:g.181475801A>G | NCBI36 |
| NG_007079.2:g.58780A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264144.5:c.3073A>G MANE Select | ENSP00000264144.4:p.Ile1025Val | |
| ENST00000264144.4:c.3073A>G | ENSP00000264144.4:p.Ile1025Val | |
| ENST00000461729.1:n.543A>G | ||
| ENST00000493293.5:c.3073A>G | ENSP00000432063.1:p.Ile1025Val | |
| NM_005562.2:c.3073A>G | NP_005553.2:p.Ile1025Val | |
| NM_018891.2:c.3073A>G | NP_061486.2:p.Ile1025Val | |
| NM_005562.3:c.3073A>G MANE Select | NP_005553.2:p.Ile1025Val | |
| NM_018891.3:c.3073A>G | NP_061486.2:p.Ile1025Val |