Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479562A>T , CM000669.2:g.117479562A>T | GRCh38 |
| NC_000007.13:g.117119616A>T , CM000669.1:g.117119616A>T | GRCh37 |
| NC_000007.12:g.116906852A>T | NCBI36 |
| NG_016465.4:g.18779A>T , LRG_663:g.18779A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-323A>T | ENSP00000417012.1:n.-323A>T | |
| ENST00000673785.1:c.-406+13731A>T | ENSP00000501235.1:n.-406+13731A>T | |
| ENST00000446805.1:c.-323A>T | ENSP00000417012.1:n.-323A>T | |
| ENST00000546407.1:n.166+3754A>T | ||
| XM_011515751.1:c.143+217A>T | XP_011514053.1:n.143+217A>T | |
| XM_011515752.1:c.143+217A>T | XP_011514054.1:n.143+217A>T | |
| XM_011515753.1:c.-323A>T | XP_011514055.1:n.-323A>T | |
| XM_011515754.1:c.-651A>T | XP_011514056.1:n.-651A>T |