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