Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133637199G= , CM000671.2:g.133637199G= | GRCh38 |
| NC_000009.11:g.136502321G= , CM000671.1:g.136502321G= | GRCh37 |
| NC_000009.10:g.135492142G= | NCBI36 |
| NG_008645.1:g.5837G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.339+489G= MANE Select | NP_000778.3:n.339+489G= |
| ENST00000393056.8:c.339+489G= MANE Select | ENSP00000376776.2:n.339+489G= |
| NM_000787.3:c.339+489G= | NP_000778.3:n.339+489G= |
| ENST00000263611.2:c.297+489G= | ENSP00000263611.2:n.297+489G= |
| ENST00000263611.3:c.333+489G= | ENSP00000263611.3:n.333+489G= |
| ENST00000393056.6:c.339+489G= | ENSP00000376776.2:n.339+489G= |