Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75005676G>A , CM000676.2:g.75005676G>A | GRCh38 |
| NC_000014.8:g.75472379G>A , CM000676.1:g.75472379G>A | GRCh37 |
| NC_000014.7:g.74542132G>A | NCBI36 |
| NG_013333.1:g.7768G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.598-190G>A MANE Select | ENSP00000266126.5:n.598-190G>A | |
| ENST00000266126.9:c.598-190G>A | ENSP00000266126.5:n.598-190G>A | |
| ENST00000553401.5:c.571-165G>A | ENSP00000451681.1:n.571-165G>A | |
| ENST00000556028.5:c.598-221G>A | ENSP00000452311.1:n.598-221G>A | |
| NM_014239.3:c.598-190G>A | NP_055054.1:n.598-190G>A | |
| NM_014239.4:c.598-190G>A MANE Select | NP_055054.1:n.598-190G>A |