Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10153288A>C , CM000665.2:g.10153288A>C | GRCh38 |
| NC_000003.11:g.10194972A>C , CM000665.1:g.10194972A>C | GRCh37 |
| NC_000003.10:g.10169972A>C | NCBI36 |
| NG_008212.3:g.16654A>C , LRG_322:g.16654A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696153.1:c.*3323A>C | ENSP00000512444.1:n.*3323A>C | |
| ENST00000256474.3:c.*3323A>C MANE Select | ENSP00000256474.3:n.*3323A>C | |
| NM_000551.3:c.*3323A>C , LRG_322t1:c.*3323A>C | NP_000542.1:n.*3323A>C | |
| NM_198156.2:c.*3323A>C | NP_937799.1:n.*3323A>C | |
| NM_001354723.1:c.*3519A>C | NP_001341652.1:n.*3519A>C | |
| NM_000551.4:c.*3323A>C MANE Select | NP_000542.1:n.*3323A>C | |
| NM_001354723.2:c.*3519A>C | NP_001341652.1:n.*3519A>C | |
| NM_198156.3:c.*3323A>C | NP_937799.1:n.*3323A>C |