Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.15659411G= , CM000669.2:g.15659411G= | GRCh38 |
| NC_000007.13:g.15699036G= , CM000669.1:g.15699036G= | GRCh37 |
| NC_000007.12:g.15665561G= | NCBI36 |
| NG_032988.1:g.32273C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005924.5:c.517+26475C= MANE Select | NP_005915.2:n.517+26475C= |
| ENST00000262041.6:c.517+26475C= MANE Select | ENSP00000262041.5:n.517+26475C= |
| NM_005924.4:c.517+26475C= | NP_005915.2:n.517+26475C= |
| ENST00000262041.5:c.517+26475C= | ENSP00000262041.5:n.517+26475C= |
| XR_927056.1:n.4770-16609G= |