Linked Data
gnomAD v4:
7-117479179-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479179G>T , CM000669.2:g.117479179G>T | GRCh38 |
| NC_000007.13:g.117119233G>T , CM000669.1:g.117119233G>T | GRCh37 |
| NC_000007.12:g.116906469G>T | NCBI36 |
| NG_016465.4:g.18396G>T , LRG_663:g.18396G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-525-65G>T | ENSP00000417012.1:n.-525-65G>T | |
| ENST00000673785.1:c.-406+13348G>T | ENSP00000501235.1:n.-406+13348G>T | |
| ENST00000546407.1:n.166+3371G>T | ||
| XM_011515751.1:c.42-65G>T | XP_011514053.1:n.42-65G>T | |
| XM_011515752.1:c.42-65G>T | XP_011514054.1:n.42-65G>T | |
| XM_011515754.1:c.-918G>T | XP_011514056.1:n.-918G>T |