dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.637932G>A , CM000673.2:g.637932G>A | GRCh38 |
| NC_000011.9:g.637932G>A , CM000673.1:g.637932G>A | GRCh37 |
| NC_000011.8:g.627932G>A | NCBI36 |
| NG_021241.1:g.5628G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176183.6:c.285+343G>A MANE Select | ENSP00000176183.5:n.285+343G>A | |
| ENST00000176183.5:c.285+343G>A | ENSP00000176183.5:n.285+343G>A | |
| NM_000797.3:c.285+343G>A | NP_000788.2:n.285+343G>A | |
| NM_000797.4:c.285+343G>A MANE Select | NP_000788.2:n.285+343G>A |