Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33087761C= , CM000668.2:g.33087761C= | GRCh38 |
| NC_000006.11:g.33055538C= , CM000668.1:g.33055538C= | GRCh37 |
| NC_000006.10:g.33163516C= | NCBI36 |
| NG_033242.1:g.16836C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002121.6:c.*1227C= MANE Select | NP_002112.3:n.*1227C= |
| ENST00000418931.7:c.*1227C= MANE Select | ENSP00000408146.2:n.*1227C= |
| NM_002121.5:c.*1227C= | NP_002112.3:n.*1227C= |