Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117478776C>T , CM000669.2:g.117478776C>T | GRCh38 |
| NC_000007.13:g.117118830C>T , CM000669.1:g.117118830C>T | GRCh37 |
| NC_000007.12:g.116906066C>T | NCBI36 |
| NG_016465.4:g.17993C>T , LRG_663:g.17993C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-526+354C>T | ENSP00000417012.1:n.-526+354C>T | |
| ENST00000673785.1:c.-406+12945C>T | ENSP00000501235.1:n.-406+12945C>T | |
| ENST00000546407.1:n.166+2968C>T | ||
| XM_011515751.1:c.41+354C>T | XP_011514053.1:n.41+354C>T | |
| XM_011515752.1:c.41+354C>T | XP_011514054.1:n.41+354C>T | |
| XM_011515754.1:c.-1321C>T | XP_011514056.1:n.-1321C>T |