Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479928A>T , CM000669.2:g.117479928A>T | GRCh38 |
| NC_000007.13:g.117119982A>T , CM000669.1:g.117119982A>T | GRCh37 |
| NC_000007.12:g.116907218A>T | NCBI36 |
| NG_016465.4:g.19145A>T , LRG_663:g.19145A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-191+234A>T | ENSP00000417012.1:n.-191+234A>T | |
| ENST00000673785.1:c.-406+14097A>T | ENSP00000501235.1:n.-406+14097A>T | |
| ENST00000446805.1:c.-191+234A>T | ENSP00000417012.1:n.-191+234A>T | |
| ENST00000546407.1:n.166+4120A>T | ||
| XM_011515751.1:c.143+583A>T | XP_011514053.1:n.143+583A>T | |
| XM_011515752.1:c.143+583A>T | XP_011514054.1:n.143+583A>T | |
| XM_011515753.1:c.-191+234A>T | XP_011514055.1:n.-191+234A>T | |
| XM_011515754.1:c.-518-220A>T | XP_011514056.1:n.-518-220A>T |