Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479316T= , CM000669.2:g.117479316T= | GRCh38 |
| NC_000007.13:g.117119370T= , CM000669.1:g.117119370T= | GRCh37 |
| NC_000007.12:g.116906606T= | NCBI36 |
| NG_016465.4:g.18533T= , LRG_663:g.18533T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-453T= | ENSP00000417012.1:n.-453T= | |
| ENST00000673785.1:c.-406+13485T= | ENSP00000501235.1:n.-406+13485T= | |
| ENST00000446805.1:c.-453T= | ENSP00000417012.1:n.-453T= | |
| ENST00000546407.1:n.166+3508T= | ||
| XM_011515751.1:c.114T= | XP_011514053.1:p.Ser38= | |
| XM_011515752.1:c.114T= | XP_011514054.1:p.Ser38= | |
| XM_011515753.1:c.-453T= | XP_011514055.1:n.-453T= | |
| XM_011515754.1:c.-781T= | XP_011514056.1:n.-781T= |