Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100825743T>A , CM000669.2:g.100825743T>A | GRCh38 |
| NC_000007.13:g.100423365T>A , CM000669.1:g.100423365T>A | GRCh37 |
| NC_000007.12:g.100261301T>A | NCBI36 |
| NG_052671.1:g.6779A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004444.5:c.52+1236A>T MANE Select | NP_004435.3:n.52+1236A>T |
| ENST00000358173.8:c.52+1236A>T MANE Select | ENSP00000350896.3:n.52+1236A>T |
| NM_004444.4:c.52+1236A>T | NP_004435.3:n.52+1236A>T |
| ENST00000358173.7:c.52+1236A>T | ENSP00000350896.3:n.52+1236A>T |
| ENST00000360620.7:c.52+1236A>T | ENSP00000353833.3:n.52+1236A>T |
| ENST00000477446.5:n.52+1236A>T | |
| ENST00000489808.1:n.52+1236A>T | |
| ENST00000616502.4:c.52+1236A>T | ENSP00000482702.1:n.52+1236A>T |
| XM_017011816.1:c.52+1236A>T | XP_016867305.1:n.52+1236A>T |