Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31322359A= , CM000680.2:g.31322359A= | GRCh38 |
| NC_000018.9:g.28902322A= , CM000680.1:g.28902322A= | GRCh37 |
| NC_000018.8:g.27156320A= | NCBI36 |
| NG_011803.2:g.9271A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001942.4:c.48+4011A= MANE Select | NP_001933.2:n.48+4011A= |
| ENST00000257192.5:c.48+4011A= MANE Select | ENSP00000257192.4:n.48+4011A= |
| NM_001942.3:c.48+4011A= | NP_001933.2:n.48+4011A= |
| ENST00000257192.4:c.48+4011A= | ENSP00000257192.4:n.48+4011A= |