Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33088122G>T , CM000668.2:g.33088122G>T | GRCh38 |
| NC_000006.11:g.33055899G>T , CM000668.1:g.33055899G>T | GRCh37 |
| NC_000006.10:g.33163877G>T | NCBI36 |
| NG_033242.1:g.17197G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002121.6:c.*1588G>T MANE Select | NP_002112.3:n.*1588G>T |
| ENST00000418931.7:c.*1588G>T MANE Select | ENSP00000408146.2:n.*1588G>T |
| NM_002121.5:c.*1588G>T | NP_002112.3:n.*1588G>T |