Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506580G>A , CM000672.2:g.122506580G>A | GRCh38 |
| NC_000010.10:g.124266096G>A , CM000672.1:g.124266096G>A | GRCh37 |
| NC_000010.9:g.124256086G>A | NCBI36 |
| NG_011554.1:g.50056G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.778-111G>A MANE Select | ENSP00000357980.3:n.778-111G>A | |
| ENST00000648167.1:c.460-111G>A | ENSP00000498033.1:n.460-111G>A | |
| ENST00000368984.7:c.778-111G>A | ENSP00000357980.3:n.778-111G>A | |
| NM_002775.4:c.778-111G>A | NP_002766.1:n.778-111G>A | |
| NM_002775.5:c.778-111G>A MANE Select | NP_002766.1:n.778-111G>A |