Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30756586C= , CM000678.2:g.30756586C= | GRCh38 |
| NC_000016.9:g.30767907C= , CM000678.1:g.30767907C= | GRCh37 |
| NC_000016.8:g.30675408C= | NCBI36 |
| NG_016616.1:g.13288C= | |
| NG_016616.2:g.13288C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.802-4C= MANE Select | ENSP00000455607.1:n.802-4C= | |
| ENST00000328273.11:c.814-4C= | ENSP00000329968.7:n.814-4C= | |
| ENST00000424889.7:c.802-4C= | ENSP00000388571.3:n.802-4C= | |
| ENST00000563588.5:c.802-4C= | ENSP00000455607.1:n.802-4C= | |
| ENST00000563913.5:n.1135-4C= | ||
| ENST00000564838.5:n.931-4C= | ||
| NM_000294.2:c.802-4C= | NP_000285.1:n.802-4C= | |
| NM_001172432.1:c.802-4C= | NP_001165903.1:n.802-4C= | |
| NM_000294.3:c.802-4C= MANE Select | NP_000285.1:n.802-4C= | |
| NM_001172432.2:c.802-4C= | NP_001165903.1:n.802-4C= |