Linked Data
dbSNP Id:
rs188000079
gnomAD v2:
7-153558743-C-G
gnomAD v3:
7-153861658-C-G
gnomAD v4:
7-153861658-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.153861658C>G , CM000669.2:g.153861658C>G | GRCh38 |
| NC_000007.13:g.153558743C>G , CM000669.1:g.153558743C>G | GRCh37 |
| NC_000007.12:g.153189676C>G | NCBI36 |
| NG_033878.2:g.118673C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706130.1:c.60+112650C>G | ENSP00000516215.1:n.60+112650C>G | |
| NM_001364497.1:c.60+112650C>G | NP_001351426.1:n.60+112650C>G | |
| NM_001364498.1:c.60+112650C>G | NP_001351427.1:n.60+112650C>G | |
| NM_001364499.1:c.60+112650C>G | NP_001351428.1:n.60+112650C>G | |
| NM_001364500.1:c.60+112650C>G | NP_001351429.1:n.60+112650C>G | |
| XR_001745002.1:n.3345+3035C>G | ||
| NM_001364497.2:c.60+112650C>G | NP_001351426.1:n.60+112650C>G | |
| NM_001364498.2:c.60+112650C>G | NP_001351427.1:n.60+112650C>G | |
| NM_001364499.2:c.60+112650C>G | NP_001351428.1:n.60+112650C>G | |
| NM_001364500.2:c.60+112650C>G | NP_001351429.1:n.60+112650C>G |