Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969400T= , CM000685.2:g.154969400T= | GRCh38 |
| NC_000023.10:g.154197675T= , CM000685.1:g.154197675T= | GRCh37 |
| NC_000023.9:g.153850869T= | NCBI36 |
| NG_011403.1:g.58324A= | |
| NG_011403.2:g.58324A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.940A= MANE Select | ENSP00000353393.4:p.Thr314= | |
| ENST00000647125.1:c.*816A= | ENSP00000496062.1:n.*816A= | |
| ENST00000360256.8:c.940A= | ENSP00000353393.4:p.Thr314= | |
| NM_000132.3:c.940A= | NP_000123.1:p.Thr314= | |
| XM_011531126.1:c.835A= | XP_011529428.1:p.Thr279= | |
| NM_000132.4:c.940A= MANE Select | NP_000123.1:p.Thr314= |