Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73196806G>A , CM000679.2:g.73196806G>A | GRCh38 |
| NC_000017.10:g.71192945G>A , CM000679.1:g.71192945G>A | GRCh37 |
| NC_000017.9:g.68704540G>A | NCBI36 |
| NG_008971.1:g.8773G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299886.9:c.560+55G>A MANE Select | ENSP00000299886.4:n.560+55G>A | |
| ENST00000299886.8:c.560+55G>A | ENSP00000299886.4:n.560+55G>A | |
| ENST00000438720.7:c.558+55G>A | ||
| ENST00000582587.2:c.557+55G>A | ||
| ENST00000618996.4:c.560+55G>A | ENSP00000479450.1:n.560+55G>A | |
| NM_018714.2:c.560+55G>A | NP_061184.1:n.560+55G>A | |
| NM_018714.3:c.560+55G>A MANE Select | NP_061184.1:n.560+55G>A |