Linked Data
dbSNP Id:
rs11748198
gnomAD v2:
5-135575829-C-A
gnomAD v3:
5-136240141-C-A
gnomAD v4:
5-136240141-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136240141C>A , CM000667.2:g.136240141C>A | GRCh38 |
| NC_000005.9:g.135575829C>A , CM000667.1:g.135575829C>A | GRCh37 |
| NC_000005.8:g.135603728C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352189.8:c.1496+7330G>T (TRPC7) | ENSP00000330322.5:n.1496+7330G>T | |
| ENST00000378459.7:c.1661+7330G>T (TRPC7) | ENSP00000367720.3:n.1661+7330G>T | |
| ENST00000502753.4:c.1679+7330G>T (TRPC7) | ENSP00000424854.3:n.1679+7330G>T | |
| ENST00000503275.6:c.*717+7330G>T (TRPC7) | ENSP00000421571.2:n.*717+7330G>T | |
| ENST00000513104.6:c.1844+7330G>T (TRPC7) MANE Select | ENSP00000426070.2:n.1844+7330G>T | |
| ENST00000352189.7:c.1496+7330G>T (TRPC7) | ENSP00000330322.5:n.1496+7330G>T | |
| ENST00000378459.6:c.1661+7330G>T (TRPC7) | ENSP00000367720.3:n.1661+7330G>T | |
| ENST00000502753.3:c.1679+7330G>T (TRPC7) | ENSP00000424854.3:n.1679+7330G>T | |
| ENST00000503275.5:c.1860+7330G>T (TRPC7) | ENSP00000421571.2:n.1860+7330G>T | |
| ENST00000513104.5:c.1844+7330G>T (TRPC7) | ENSP00000426070.1:n.1844+7330G>T | |
| ENST00000514963.5:c.1279+7330G>T (TRPC7) | ENSP00000426870.2:n.1279+7330G>T | |
| NM_001167576.1:c.1496+7330G>T (TRPC7) | NP_001161048.1:n.1496+7330G>T | |
| NM_001167577.1:c.1661+7330G>T (TRPC7) | NP_001161049.1:n.1661+7330G>T | |
| NM_020389.2:c.1844+7330G>T (TRPC7) | NP_065122.1:n.1844+7330G>T | |
| XM_011543516.1:c.1817+7330G>T (TRPC7) | XP_011541818.1:n.1817+7330G>T | |
| XM_011543517.1:c.1652+7330G>T (TRPC7) | XP_011541819.1:n.1652+7330G>T | |
| XM_011543518.1:c.1649+7330G>T (TRPC7) | XP_011541820.1:n.1649+7330G>T | |
| NR_133682.1:n.59+13428C>A (TRPC7-AS2) | ||
| NM_001167576.2:c.1496+7330G>T (TRPC7) | NP_001161048.1:n.1496+7330G>T | |
| NM_001167577.2:c.1661+7330G>T (TRPC7) | NP_001161049.1:n.1661+7330G>T | |
| NM_001376901.1:c.1679+7330G>T (TRPC7) | NP_001363830.1:n.1679+7330G>T | |
| NM_020389.3:c.1844+7330G>T (TRPC7) MANE Select | NP_065122.1:n.1844+7330G>T |