Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33005738T>C , CM000668.2:g.33005738T>C | GRCh38 |
| NC_000006.11:g.32973515T>C , CM000668.1:g.32973515T>C | GRCh37 |
| NC_000006.10:g.33081493T>C | NCBI36 |
| NG_012007.1:g.8875A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229829.7:c.*1100A>G MANE Select | ENSP00000229829.3:n.*1100A>G | |
| ENST00000229829.6:c.*1100A>G | ENSP00000229829.3:n.*1100A>G | |
| NM_002119.3:c.*1100A>G | NP_002110.1:n.*1100A>G | |
| NM_002119.4:c.*1100A>G MANE Select | NP_002110.1:n.*1100A>G |