Linked Data
dbSNP Id:
rs1365178708
gnomAD v2:
11-6411646-C-G
gnomAD v3:
11-6390416-C-G
gnomAD v4:
11-6390416-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6390416C>G , CM000673.2:g.6390416C>G | GRCh38 |
| NC_000011.9:g.6411646C>G , CM000673.1:g.6411646C>G | GRCh37 |
| NC_000011.8:g.6368222C>G | NCBI36 |
| NG_011780.1:g.4992C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000543.4:c.-183C>G | NP_000534.3:n.-183C>G | |
| NM_001007593.2:c.-183C>G | NP_001007594.2:n.-183C>G | |
| XM_005253075.3:c.-183C>G | XP_005253132.1:n.-183C>G | |
| XM_011520303.1:c.-183C>G | XP_011518605.1:n.-183C>G | |
| XM_011520304.1:c.-183C>G | XP_011518606.1:n.-183C>G | |
| XR_930886.1:n.116C>G | ||
| NM_001318087.1:c.-183C>G | NP_001305016.1:n.-183C>G | |
| NM_001318088.1:c.-1144C>G | NP_001305017.1:n.-1144C>G | |
| NR_027400.2:n.3C>G | ||
| NR_134502.1:n.3C>G |