Linked Data
gnomAD v4:
1-229431798-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431798T>C , CM000663.2:g.229431798T>C | GRCh38 |
| NC_000001.10:g.229567545T>C , CM000663.1:g.229567545T>C | GRCh37 |
| NC_000001.9:g.227634168T>C | NCBI36 |
| NG_006672.1:g.7299A>G , LRG_429:g.7299A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.913A>G | ENSP00000355644.4:p.Thr305Ala | |
| ENST00000684723.1:c.778A>G | ENSP00000508084.1:p.Thr260Ala | |
| ENST00000366683.3:c.544A>G | ENSP00000355644.3:p.Thr182Ala | |
| ENST00000366684.7:c.913A>G MANE Select | ENSP00000355645.3:p.Thr305Ala | |
| NM_001100.3:c.913A>G , LRG_429t1:c.913A>G | NP_001091.1:p.Thr305Ala | |
| NM_001100.4:c.913A>G MANE Select | NP_001091.1:p.Thr305Ala |