Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479303T= , CM000669.2:g.117479303T= | GRCh38 |
| NC_000007.13:g.117119357T= , CM000669.1:g.117119357T= | GRCh37 |
| NC_000007.12:g.116906593T= | NCBI36 |
| NG_016465.4:g.18520T= , LRG_663:g.18520T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-466T= | ENSP00000417012.1:n.-466T= | |
| ENST00000673785.1:c.-406+13472T= | ENSP00000501235.1:n.-406+13472T= | |
| ENST00000546407.1:n.166+3495T= | ||
| XM_011515751.1:c.101T= | XP_011514053.1:p.Ile34= | |
| XM_011515752.1:c.101T= | XP_011514054.1:p.Ile34= | |
| XM_011515754.1:c.-794T= | XP_011514056.1:n.-794T= |