Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75004696T>A , CM000676.2:g.75004696T>A | GRCh38 |
| NC_000014.8:g.75471399T>A , CM000676.1:g.75471399T>A | GRCh37 |
| NC_000014.7:g.74541152T>A | NCBI36 |
| NG_013333.1:g.6788T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014239.4:c.434-41T>A MANE Select | NP_055054.1:n.434-41T>A |
| ENST00000266126.10:c.434-41T>A MANE Select | ENSP00000266126.5:n.434-41T>A |
| NM_014239.3:c.434-41T>A | NP_055054.1:n.434-41T>A |
| ENST00000266126.9:c.434-41T>A | ENSP00000266126.5:n.434-41T>A |
| ENST00000553401.5:c.407-41T>A | ENSP00000451681.1:n.407-41T>A |
| ENST00000553539.1:n.729-41T>A | |
| ENST00000555522.1:n.492-41T>A | |
| ENST00000556028.5:c.434-41T>A | ENSP00000452311.1:n.434-41T>A |