Linked Data
gnomAD v4:
20-3082982-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3082982T>G , CM000682.2:g.3082982T>G | GRCh38 |
| NC_000020.10:g.3063628T>G , CM000682.1:g.3063628T>G | GRCh37 |
| NC_000020.9:g.3011628T>G | NCBI36 |
| NG_008663.1:g.6743A>C , LRG_715:g.6743A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.317A>C MANE Select | ENSP00000369647.3:p.Asn106Thr | |
| NM_000490.4:c.317A>C , LRG_715t1:c.317A>C | NP_000481.2:p.Asn106Thr | |
| XM_011529267.1:c.317A>C | XP_011527569.1:p.Asn106Thr | |
| XM_011529267.2:c.317A>C | XP_011527569.1:p.Asn106Thr | |
| NM_000490.5:c.317A>C MANE Select | NP_000481.2:p.Asn106Thr |