Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479838T>G , CM000669.2:g.117479838T>G | GRCh38 |
| NC_000007.13:g.117119892T>G , CM000669.1:g.117119892T>G | GRCh37 |
| NC_000007.12:g.116907128T>G | NCBI36 |
| NG_016465.4:g.19055T>G , LRG_663:g.19055T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000446805.2:c.-191+144T>G | ENSP00000417012.1:n.-191+144T>G | |
| ENST00000673785.1:c.-406+14007T>G | ENSP00000501235.1:n.-406+14007T>G | |
| ENST00000446805.1:c.-191+144T>G | ENSP00000417012.1:n.-191+144T>G | |
| ENST00000546407.1:n.166+4030T>G | ||
| XM_011515751.1:c.143+493T>G | XP_011514053.1:n.143+493T>G | |
| XM_011515752.1:c.143+493T>G | XP_011514054.1:n.143+493T>G | |
| XM_011515753.1:c.-191+144T>G | XP_011514055.1:n.-191+144T>G | |
| XM_011515754.1:c.-519+144T>G | XP_011514056.1:n.-519+144T>G |