Linked Data
dbSNP Id:
rs1181816449
gnomAD v2:
7-117118854-A-G
gnomAD v3:
7-117478800-A-G
gnomAD v4:
7-117478800-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117478800A>G , CM000669.2:g.117478800A>G | GRCh38 |
| NC_000007.13:g.117118854A>G , CM000669.1:g.117118854A>G | GRCh37 |
| NC_000007.12:g.116906090A>G | NCBI36 |
| NG_016465.4:g.18017A>G , LRG_663:g.18017A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-526+378A>G | ENSP00000417012.1:n.-526+378A>G | |
| ENST00000673785.1:c.-406+12969A>G | ENSP00000501235.1:n.-406+12969A>G | |
| ENST00000546407.1:n.166+2992A>G | ||
| XM_011515751.1:c.41+378A>G | XP_011514053.1:n.41+378A>G | |
| XM_011515752.1:c.41+378A>G | XP_011514054.1:n.41+378A>G | |
| XM_011515754.1:c.-1297A>G | XP_011514056.1:n.-1297A>G |