Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26245880G>A , CM000672.2:g.26245880G>A | GRCh38 |
| NC_000010.10:g.26534809G>A , CM000672.1:g.26534809G>A | GRCh37 |
| NC_000010.9:g.26574815G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376261.8:c.841-41G>A MANE Select | ENSP00000365437.3:n.841-41G>A | |
| ENST00000648567.1:c.499-41G>A | ENSP00000498009.1:n.499-41G>A | |
| ENST00000259271.7:c.841-41G>A | ENSP00000259271.3:n.841-41G>A | |
| ENST00000376261.7:c.841-41G>A | ENSP00000365437.3:n.841-41G>A | |
| NM_000818.2:c.841-41G>A | NP_000809.1:n.841-41G>A | |
| NM_001134366.1:c.841-41G>A | NP_001127838.1:n.841-41G>A | |
| NM_001134366.2:c.841-41G>A MANE Select | NP_001127838.1:n.841-41G>A | |
| NM_000818.3:c.841-41G>A | NP_000809.1:n.841-41G>A |