Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33086565T= , CM000668.2:g.33086565T= | GRCh38 |
| NC_000006.11:g.33054342T= , CM000668.1:g.33054342T= | GRCh37 |
| NC_000006.10:g.33162320T= | NCBI36 |
| NG_033242.1:g.15640T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002121.6:c.*31T= MANE Select | NP_002112.3:n.*31T= |
| ENST00000418931.7:c.*31T= MANE Select | ENSP00000408146.2:n.*31T= |
| NM_002121.5:c.*31T= | NP_002112.3:n.*31T= |
| ENST00000416804.1:c.725T= | |
| ENST00000418931.6:c.*31T= | ENSP00000408146.2:n.*31T= |
| XM_006715078.2:c.*31T= | XP_006715141.1:n.*31T= |