Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117478780C>T , CM000669.2:g.117478780C>T | GRCh38 |
| NC_000007.13:g.117118834C>T , CM000669.1:g.117118834C>T | GRCh37 |
| NC_000007.12:g.116906070C>T | NCBI36 |
| NG_016465.4:g.17997C>T , LRG_663:g.17997C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-526+358C>T | ENSP00000417012.1:n.-526+358C>T | |
| ENST00000673785.1:c.-406+12949C>T | ENSP00000501235.1:n.-406+12949C>T | |
| ENST00000546407.1:n.166+2972C>T | ||
| XM_011515751.1:c.41+358C>T | XP_011514053.1:n.41+358C>T | |
| XM_011515752.1:c.41+358C>T | XP_011514054.1:n.41+358C>T | |
| XM_011515754.1:c.-1317C>T | XP_011514056.1:n.-1317C>T |