Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117274298T>A , CM000672.2:g.117274298T>A | GRCh38 |
| NC_000010.10:g.119033809T>A , CM000672.1:g.119033809T>A | GRCh37 |
| NC_000010.9:g.119023799T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003054.6:c.1441-2864T>A MANE Select | NP_003045.2:n.1441-2864T>A |
| ENST00000644641.2:c.1441-2864T>A MANE Select | ENSP00000496339.1:n.1441-2864T>A |
| NM_003054.4:c.1441-2864T>A | NP_003045.2:n.1441-2864T>A |
| NM_003054.5:c.1441-2864T>A | NP_003045.2:n.1441-2864T>A |
| ENST00000298472.9:c.1441-2864T>A | ENSP00000298472.5:n.1441-2864T>A |
| ENST00000497497.1:n.1857-2864T>A |