Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133640119A>G , CM000671.2:g.133640119A>G | GRCh38 |
| NC_000009.11:g.136505241A>G , CM000671.1:g.136505241A>G | GRCh37 |
| NC_000009.10:g.135495062A>G | NCBI36 |
| NG_008645.1:g.8757A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263611.3:c.334-2088A>G | ENSP00000263611.3:n.334-2088A>G | |
| ENST00000393056.8:c.486+127A>G MANE Select | ENSP00000376776.2:n.486+127A>G | |
| ENST00000263611.2:c.298-2088A>G | ENSP00000263611.2:n.298-2088A>G | |
| ENST00000393056.6:c.486+127A>G | ENSP00000376776.2:n.486+127A>G | |
| NM_000787.3:c.486+127A>G | NP_000778.3:n.486+127A>G | |
| NM_000787.4:c.486+127A>G MANE Select | NP_000778.3:n.486+127A>G |