Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23222645C= , CM000670.2:g.23222645C= | GRCh38 |
| NC_000008.10:g.23080158C= , CM000670.1:g.23080158C= | GRCh37 |
| NC_000008.9:g.23136103C= | NCBI36 |
| NG_032107.1:g.7523G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000221132.8:c.306+2111G= MANE Select | ENSP00000221132.3:n.306+2111G= | |
| ENST00000221132.7:c.306+2111G= | ENSP00000221132.3:n.306+2111G= | |
| ENST00000524158.5:c.-301+1788G= | ENSP00000428884.1:n.-301+1788G= | |
| ENST00000613472.1:c.31+2386G= | ENSP00000480778.1:n.31+2386G= | |
| NM_003844.3:c.306+2111G= | NP_003835.3:n.306+2111G= | |
| NM_003844.4:c.306+2111G= MANE Select | NP_003835.3:n.306+2111G= |