Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479590C>A , CM000669.2:g.117479590C>A | GRCh38 |
| NC_000007.13:g.117119644C>A , CM000669.1:g.117119644C>A | GRCh37 |
| NC_000007.12:g.116906880C>A | NCBI36 |
| NG_016465.4:g.18807C>A , LRG_663:g.18807C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-295C>A | ENSP00000417012.1:n.-295C>A | |
| ENST00000673785.1:c.-406+13759C>A | ENSP00000501235.1:n.-406+13759C>A | |
| ENST00000446805.1:c.-295C>A | ENSP00000417012.1:n.-295C>A | |
| ENST00000546407.1:n.166+3782C>A | ||
| XM_011515751.1:c.143+245C>A | XP_011514053.1:n.143+245C>A | |
| XM_011515752.1:c.143+245C>A | XP_011514054.1:n.143+245C>A | |
| XM_011515753.1:c.-295C>A | XP_011514055.1:n.-295C>A | |
| XM_011515754.1:c.-623C>A | XP_011514056.1:n.-623C>A |