Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10150308G>T , CM000665.2:g.10150308G>T | GRCh38 |
| NC_000003.11:g.10191992G>T , CM000665.1:g.10191992G>T | GRCh37 |
| NC_000003.10:g.10166992G>T | NCBI36 |
| NG_008212.3:g.13674G>T , LRG_322:g.13674G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256474.3:c.*343G>T MANE Select | ENSP00000256474.3:p.= | |
| ENST00000256474.2:c.*343G>T | ENSP00000256474.2:p.= | |
| ENST00000345392.2:c.*343G>T | ENSP00000344757.2:p.= | |
| NM_000551.3:c.*343G>T , LRG_322t1:c.*343G>T | NP_000542.1:p.= | |
| NM_198156.2:c.*343G>T | NP_937799.1:p.= | |
| NM_001354723.1:c.*539G>T | NP_001341652.1:p.= | |
| NM_000551.4:c.*343G>T MANE Select | NP_000542.1:p.= | |
| NM_001354723.2:c.*539G>T | NP_001341652.1:p.= | |
| NM_198156.3:c.*343G>T | NP_937799.1:p.= |