Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479938G>T , CM000669.2:g.117479938G>T | GRCh38 |
| NC_000007.13:g.117119992G>T , CM000669.1:g.117119992G>T | GRCh37 |
| NC_000007.12:g.116907228G>T | NCBI36 |
| NG_016465.4:g.19155G>T , LRG_663:g.19155G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000446805.2:c.-191+244G>T | ENSP00000417012.1:n.-191+244G>T | |
| ENST00000673785.1:c.-406+14107G>T | ENSP00000501235.1:n.-406+14107G>T | |
| ENST00000446805.1:c.-191+244G>T | ENSP00000417012.1:n.-191+244G>T | |
| ENST00000546407.1:n.166+4130G>T | ||
| XM_011515751.1:c.143+593G>T | XP_011514053.1:n.143+593G>T | |
| XM_011515752.1:c.143+593G>T | XP_011514054.1:n.143+593G>T | |
| XM_011515753.1:c.-191+244G>T | XP_011514055.1:n.-191+244G>T | |
| XM_011515754.1:c.-518-210G>T | XP_011514056.1:n.-518-210G>T |