Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479300T= , CM000669.2:g.117479300T= | GRCh38 |
| NC_000007.13:g.117119354T= , CM000669.1:g.117119354T= | GRCh37 |
| NC_000007.12:g.116906590T= | NCBI36 |
| NG_016465.4:g.18517T= , LRG_663:g.18517T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-469T= | ENSP00000417012.1:n.-469T= | |
| ENST00000673785.1:c.-406+13469T= | ENSP00000501235.1:n.-406+13469T= | |
| ENST00000546407.1:n.166+3492T= | ||
| XM_011515751.1:c.98T= | XP_011514053.1:p.Leu33= | |
| XM_011515752.1:c.98T= | XP_011514054.1:p.Leu33= | |
| XM_011515754.1:c.-797T= | XP_011514056.1:n.-797T= |