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