Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97598944G= , CM000672.2:g.97598944G= | GRCh38 |
| NC_000010.10:g.99358701G= , CM000672.1:g.99358701G= | GRCh37 |
| NC_000010.9:g.99348691G= | NCBI36 |
| NG_027922.1:g.19600G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.340+41G= MANE Select | ENSP00000359680.4:n.340+41G= | |
| ENST00000370646.8:c.340+41G= | ENSP00000359680.4:n.340+41G= | |
| ENST00000370647.8:c.212-2913G= | ENSP00000359681.4:n.212-2913G= | |
| ENST00000370649.3:c.212-2913G= | ENSP00000359683.3:n.212-2913G= | |
| ENST00000465608.1:n.721+41G= | ||
| NM_001134670.1:c.212-2913G= | NP_001128142.1:n.212-2913G= | |
| NM_138413.3:c.340+41G= | NP_612422.2:n.340+41G= | |
| NM_138413.4:c.340+41G= MANE Select | NP_612422.2:n.340+41G= | |
| NM_001134670.2:c.212-2913G= | NP_001128142.1:n.212-2913G= |