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