Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131891554A>G , CM000668.2:g.131891554A>G | GRCh38 |
| NC_000006.11:g.132212694A>G , CM000668.1:g.132212694A>G | GRCh37 |
| NC_000006.10:g.132254387A>G | NCBI36 |
| NG_008206.1:g.88539A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006208.3:c.*1043A>G MANE Select | NP_006199.2:n.*1043A>G |
| ENST00000647893.1:c.*1043A>G MANE Select | ENSP00000498074.1:n.*1043A>G |
| NM_006208.2:c.*1043A>G | NP_006199.2:n.*1043A>G |
| ENST00000360971.6:c.*1043A>G | ENSP00000354238.2:n.*1043A>G |
| XM_011535896.1:c.*1043A>G | XP_011534198.1:n.*1043A>G |