Linked Data
dbSNP Id:
rs12701220
gnomAD v2:
7-1022728-T-C
gnomAD v3:
7-983092-T-C
gnomAD v4:
7-983092-T-C
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.983092T>C , CM000669.2:g.983092T>C | GRCh38 |
| NC_000007.13:g.1022728T>C , CM000669.1:g.1022728T>C | GRCh37 |
| NC_000007.12:g.989254T>C | NCBI36 |
| NG_007934.1:g.4894T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_005249889.3:c.523-4031A>G | XP_005249946.2:n.523-4031A>G | |
| XM_011515580.1:c.1108-4031A>G | XP_011513882.1:n.1108-4031A>G | |
| XM_011515581.1:c.565-4031A>G | XP_011513883.1:n.565-4031A>G | |
| XM_011515582.1:c.565-4031A>G | XP_011513884.1:n.565-4031A>G | |
| XM_011515583.1:c.565-4031A>G | XP_011513885.1:n.565-4031A>G | |
| XM_011515584.1:c.565-4031A>G | XP_011513886.1:n.565-4031A>G | |
| NR_156697.1:n.548-4031A>G | ||
| XM_011515581.3:c.565-4031A>G | XP_011513883.1:n.565-4031A>G | |
| XM_011515582.3:c.565-4031A>G | XP_011513884.1:n.565-4031A>G | |
| XM_011515583.2:c.565-4031A>G | XP_011513885.1:n.565-4031A>G | |
| XM_011515584.2:c.565-4031A>G | XP_011513886.1:n.565-4031A>G | |
| XM_017012720.2:c.565-4031A>G | XP_016868209.1:n.565-4031A>G | |
| XM_017012721.2:c.523-4031A>G | XP_016868210.1:n.523-4031A>G | |
| NR_156697.2:n.548-4031A>G |