Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178902845T>A , CM000667.2:g.178902845T>A | GRCh38 |
| NC_000005.9:g.178329846T>A , CM000667.1:g.178329846T>A | GRCh37 |
| NC_000005.8:g.178262452T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030613.4:c.-450+6871T>A MANE Select | NP_085116.2:n.-450+6871T>A |
| ENST00000361362.7:c.-450+6871T>A MANE Select | ENSP00000354453.2:n.-450+6871T>A |
| NM_030613.2:c.-450+6871T>A | NP_085116.2:n.-450+6871T>A |
| NM_030613.3:c.-450+6871T>A | NP_085116.2:n.-450+6871T>A |
| ENST00000361362.6:c.-450+6871T>A | ENSP00000354453.2:n.-450+6871T>A |
| ENST00000520660.5:c.-453+6871T>A | ENSP00000429095.1:n.-453+6871T>A |
| ENST00000520805.5:c.-447+6871T>A | ENSP00000431074.1:n.-447+6871T>A |