Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117478859A= , CM000669.2:g.117478859A= | GRCh38 |
| NC_000007.13:g.117118913A= , CM000669.1:g.117118913A= | GRCh37 |
| NC_000007.12:g.116906149A= | NCBI36 |
| NG_016465.4:g.18076A= , LRG_663:g.18076A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000446805.2:c.-525-385A= | ENSP00000417012.1:n.-525-385A= | |
| ENST00000673785.1:c.-406+13028A= | ENSP00000501235.1:n.-406+13028A= | |
| ENST00000546407.1:n.166+3051A= | ||
| XM_011515751.1:c.42-385A= | XP_011514053.1:n.42-385A= | |
| XM_011515752.1:c.42-385A= | XP_011514054.1:n.42-385A= | |
| XM_011515754.1:c.-1238A= | XP_011514056.1:n.-1238A= |