Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88700008G>A , CM000664.2:g.88700008G>A | GRCh38 |
| NC_000002.11:g.88999526G>A , CM000664.1:g.88999526G>A | GRCh37 |
| NC_000002.10:g.88780641G>A | NCBI36 |
| NG_016710.1:g.13351G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144563.3:c.347-1G>A MANE Select | NP_653164.2:n.347-1G>A |
| ENST00000283646.5:c.347-1G>A MANE Select | ENSP00000283646.3:n.347-1G>A |
| NM_144563.2:c.347-1G>A | NP_653164.2:n.347-1G>A |
| ENST00000283646.4:c.347-1G>A | ENSP00000283646.3:n.347-1G>A |
| XR_939673.1:n.398-1G>A |