Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133638828G= , CM000671.2:g.133638828G= | GRCh38 |
| NC_000009.11:g.136503950G= , CM000671.1:g.136503950G= | GRCh37 |
| NC_000009.10:g.135493771G= | NCBI36 |
| NG_008645.1:g.7466G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263611.3:c.333+2118G= | ENSP00000263611.3:n.333+2118G= | |
| ENST00000393056.8:c.340-1018G= MANE Select | ENSP00000376776.2:n.340-1018G= | |
| ENST00000263611.2:c.297+2118G= | ENSP00000263611.2:n.297+2118G= | |
| ENST00000393056.6:c.340-1018G= | ENSP00000376776.2:n.340-1018G= | |
| NM_000787.3:c.340-1018G= | NP_000778.3:n.340-1018G= | |
| NM_000787.4:c.340-1018G= MANE Select | NP_000778.3:n.340-1018G= |