Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33004659A= , CM000668.2:g.33004659A= | GRCh38 |
| NC_000006.11:g.32972436A= , CM000668.1:g.32972436A= | GRCh37 |
| NC_000006.10:g.33080414A= | NCBI36 |
| NG_012007.1:g.9954T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229829.7:c.*2179T= MANE Select | ENSP00000229829.3:n.*2179T= | |
| ENST00000229829.6:c.*2179T= | ENSP00000229829.3:n.*2179T= | |
| NM_002119.3:c.*2179T= | NP_002110.1:n.*2179T= | |
| NM_002119.4:c.*2179T= MANE Select | NP_002110.1:n.*2179T= |