Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479299C= , CM000669.2:g.117479299C= | GRCh38 |
| NC_000007.13:g.117119353C= , CM000669.1:g.117119353C= | GRCh37 |
| NC_000007.12:g.116906589C= | NCBI36 |
| NG_016465.4:g.18516C= , LRG_663:g.18516C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-470C= | ENSP00000417012.1:n.-470C= | |
| ENST00000673785.1:c.-406+13468C= | ENSP00000501235.1:n.-406+13468C= | |
| ENST00000546407.1:n.166+3491C= | ||
| XM_011515751.1:c.97C= | XP_011514053.1:p.Leu33= | |
| XM_011515752.1:c.97C= | XP_011514054.1:p.Leu33= | |
| XM_011515754.1:c.-798C= | XP_011514056.1:n.-798C= |