Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787943C= , CM000681.2:g.18787943C= | GRCh38 |
| NC_000019.9:g.18898752C= , CM000681.1:g.18898752C= | GRCh37 |
| NC_000019.8:g.18759752C= | NCBI36 |
| NG_007070.1:g.8363G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.975+269G= MANE Select | ENSP00000222271.2:n.975+269G= | |
| ENST00000222271.6:c.975+269G= | ENSP00000222271.2:n.975+269G= | |
| ENST00000425807.1:c.816+269G= | ENSP00000403792.1:n.816+269G= | |
| ENST00000542601.6:c.876+269G= | ENSP00000439156.2:n.876+269G= | |
| NM_000095.2:c.975+269G= | NP_000086.2:n.975+269G= | |
| NM_000095.3:c.975+269G= MANE Select | NP_000086.2:n.975+269G= |