Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10152478A>T , CM000665.2:g.10152478A>T | GRCh38 |
| NC_000003.11:g.10194162A>T , CM000665.1:g.10194162A>T | GRCh37 |
| NC_000003.10:g.10169162A>T | NCBI36 |
| NG_008212.3:g.15844A>T , LRG_322:g.15844A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696153.1:c.*2513A>T | ENSP00000512444.1:n.*2513A>T | |
| ENST00000256474.3:c.*2513A>T MANE Select | ENSP00000256474.3:n.*2513A>T | |
| NM_000551.3:c.*2513A>T , LRG_322t1:c.*2513A>T | NP_000542.1:n.*2513A>T | |
| NM_198156.2:c.*2513A>T | NP_937799.1:n.*2513A>T | |
| NM_001354723.1:c.*2709A>T | NP_001341652.1:n.*2709A>T | |
| NM_000551.4:c.*2513A>T MANE Select | NP_000542.1:n.*2513A>T | |
| NM_001354723.2:c.*2709A>T | NP_001341652.1:n.*2709A>T | |
| NM_198156.3:c.*2513A>T | NP_937799.1:n.*2513A>T |