Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22365894T>G , CM000673.2:g.22365894T>G | GRCh38 |
| NC_000011.9:g.22387440T>G , CM000673.1:g.22387440T>G | GRCh37 |
| NC_000011.8:g.22344016T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020346.3:c.891+205T>G MANE Select | NP_065079.1:n.891+205T>G |
| ENST00000263160.4:c.891+205T>G MANE Select | ENSP00000263160.3:n.891+205T>G |
| NM_020346.2:c.891+205T>G | NP_065079.1:n.891+205T>G |
| ENST00000263160.3:c.891+205T>G | ENSP00000263160.3:n.891+205T>G |
| ENST00000648880.1:n.574T>G |