Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52890833G>A , CM000666.2:g.52890833G>A | GRCh38 |
| NC_000004.11:g.53757000G>A , CM000666.1:g.53757000G>A | GRCh37 |
| NC_000004.10:g.53451757G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401642.8:c.1843-4967C>T MANE Select | ENSP00000384182.3:n.1843-4967C>T | |
| ENST00000388940.8:c.1708-4967C>T | ENSP00000373592.4:n.1708-4967C>T | |
| ENST00000401642.7:c.1843-4967C>T | ENSP00000384182.3:n.1843-4967C>T | |
| NM_152540.3:c.1843-4967C>T | NP_689753.2:n.1843-4967C>T | |
| XR_001741148.2:n.1832-4967C>T | ||
| NM_152540.4:c.1843-4967C>T MANE Select | NP_689753.2:n.1843-4967C>T |