Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10150314G= , CM000665.2:g.10150314G= | GRCh38 |
| NC_000003.11:g.10191998G= , CM000665.1:g.10191998G= | GRCh37 |
| NC_000003.10:g.10166998G= | NCBI36 |
| NG_008212.3:g.13680G= , LRG_322:g.13680G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256474.3:c.*349G= MANE Select | ENSP00000256474.3:p.= | |
| ENST00000256474.2:c.*349G= | ENSP00000256474.2:p.= | |
| ENST00000345392.2:c.*349G= | ENSP00000344757.2:p.= | |
| NM_000551.3:c.*349G= , LRG_322t1:c.*349G= | NP_000542.1:p.= | |
| NM_198156.2:c.*349G= | NP_937799.1:p.= | |
| NM_001354723.1:c.*545G= | NP_001341652.1:p.= | |
| NM_000551.4:c.*349G= MANE Select | NP_000542.1:p.= | |
| NM_001354723.2:c.*545G= | NP_001341652.1:p.= | |
| NM_198156.3:c.*349G= | NP_937799.1:p.= |