Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.113388048G= , CM000667.2:g.113388048G= | GRCh38 |
| NC_000005.9:g.112723745G= , CM000667.1:g.112723745G= | GRCh37 |
| NC_000005.8:g.112751644G= | NCBI36 |
| NG_012265.1:g.105783C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408903.7:c.171-2836C= MANE Select | ENSP00000386227.3:n.171-2836C= | |
| ENST00000408903.6:c.171-2836C= | ENSP00000386227.3:n.171-2836C= | |
| NM_001085377.1:c.171-2836C= | NP_001078846.1:n.171-2836C= | |
| XM_017009473.1:c.171-2836C= | XP_016864962.1:n.171-2836C= | |
| NM_001085377.2:c.171-2836C= MANE Select | NP_001078846.2:n.171-2836C= |