Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942772G= , CM000678.2:g.67942772G= | GRCh38 |
| NC_000016.9:g.67976675G= , CM000678.1:g.67976675G= | GRCh37 |
| NC_000016.8:g.66534176G= | NCBI36 |
| NG_009778.1:g.6341C= | |
| NG_033098.1:g.30923C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.428-6C= MANE Select | ENSP00000264005.5:n.428-6C= | |
| ENST00000264005.9:c.428-6C= | ENSP00000264005.5:n.428-6C= | |
| ENST00000570369.5:c.155+89C= | ||
| ENST00000570980.1:c.212-6C= | ENSP00000464651.1:n.212-6C= | |
| ENST00000573538.5:c.71-6C= | ENSP00000463220.1:n.71-6C= | |
| ENST00000573846.1:n.42-6C= | ||
| ENST00000575277.1:n.206-6C= | ||
| ENST00000575467.5:c.*123-6C= | ENSP00000460653.1:n.*123-6C= | |
| NM_000229.1:c.428-6C= | NP_000220.1:n.428-6C= | |
| NM_000229.2:c.428-6C= MANE Select | NP_000220.1:n.428-6C= |