Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116830897G= , CM000673.2:g.116830897G= | GRCh38 |
| NC_000011.9:g.116701613G= , CM000673.1:g.116701613G= | GRCh37 |
| NC_000011.8:g.116206823G= | NCBI36 |
| NG_008949.1:g.5990G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000040.3:c.179+1G= MANE Select | NP_000031.1:n.179+1G= |
| ENST00000227667.8:c.179+1G= MANE Select | ENSP00000227667.2:n.179+1G= |
| NM_000040.1:c.179+1G= | NP_000031.1:n.179+1G= |
| NM_000040.2:c.179+1G= | NP_000031.1:n.179+1G= |
| ENST00000227667.7:c.179+1G= | ENSP00000227667.2:n.179+1G= |
| ENST00000375345.3:c.233+1G= | ENSP00000364494.1:n.233+1G= |
| ENST00000470144.1:n.211+1G= | |
| ENST00000630701.1:c.233+1G= | ENSP00000486182.1:n.233+1G= |