Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30756585C= , CM000678.2:g.30756585C= | GRCh38 |
| NC_000016.9:g.30767906C= , CM000678.1:g.30767906C= | GRCh37 |
| NC_000016.8:g.30675407C= | NCBI36 |
| NG_016616.1:g.13287C= | |
| NG_016616.2:g.13287C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.802-5C= MANE Select | ENSP00000455607.1:n.802-5C= | |
| ENST00000328273.11:c.814-5C= | ENSP00000329968.7:n.814-5C= | |
| ENST00000424889.7:c.802-5C= | ENSP00000388571.3:n.802-5C= | |
| ENST00000563588.5:c.802-5C= | ENSP00000455607.1:n.802-5C= | |
| ENST00000563913.5:n.1135-5C= | ||
| ENST00000564838.5:n.931-5C= | ||
| NM_000294.2:c.802-5C= | NP_000285.1:n.802-5C= | |
| NM_001172432.1:c.802-5C= | NP_001165903.1:n.802-5C= | |
| NM_000294.3:c.802-5C= MANE Select | NP_000285.1:n.802-5C= | |
| NM_001172432.2:c.802-5C= | NP_001165903.1:n.802-5C= |