Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479214C>G , CM000669.2:g.117479214C>G | GRCh38 |
| NC_000007.13:g.117119268C>G , CM000669.1:g.117119268C>G | GRCh37 |
| NC_000007.12:g.116906504C>G | NCBI36 |
| NG_016465.4:g.18431C>G , LRG_663:g.18431C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-525-30C>G | ENSP00000417012.1:n.-525-30C>G | |
| ENST00000673785.1:c.-406+13383C>G | ENSP00000501235.1:n.-406+13383C>G | |
| ENST00000546407.1:n.166+3406C>G | ||
| XM_011515751.1:c.42-30C>G | XP_011514053.1:n.42-30C>G | |
| XM_011515752.1:c.42-30C>G | XP_011514054.1:n.42-30C>G | |
| XM_011515754.1:c.-883C>G | XP_011514056.1:n.-883C>G |