Linked Data
dbSNP Id:
rs2477686
gnomAD v2:
1-2392648-G-C
gnomAD v3:
1-2461209-G-C
gnomAD v4:
1-2461209-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2461209G>C , CM000663.2:g.2461209G>C | GRCh38 |
| NC_000001.10:g.2392648G>C , CM000663.1:g.2392648G>C | GRCh37 |
| NC_000001.9:g.2382508G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609981.5:c.116-17267G>C | ENSP00000476436.1:n.116-17267G>C | |
| XM_011542449.1:c.365-17267G>C | XP_011540751.1:n.365-17267G>C | |
| XM_011542450.1:c.365-17267G>C | XP_011540752.1:n.365-17267G>C | |
| XM_011542452.1:c.31+17237G>C | XP_011540754.1:n.31+17237G>C | |
| XM_011542454.1:c.365-17267G>C | XP_011540756.1:n.365-17267G>C | |
| XM_011542455.1:c.116-17267G>C | XP_011540757.1:n.116-17267G>C | |
| XM_011542456.1:c.116-17267G>C | XP_011540758.1:n.116-17267G>C | |
| XM_011542457.1:c.365-17267G>C | XP_011540759.1:n.365-17267G>C | |
| XM_011542459.1:c.365-17267G>C | XP_011540761.1:n.365-17267G>C | |
| XM_011542460.1:c.365-17267G>C | XP_011540762.1:n.365-17267G>C | |
| XR_946803.1:n.392-17267G>C | ||
| XM_017002870.1:c.410-17267G>C | XP_016858359.1:n.410-17267G>C | |
| XM_017002872.1:c.410-17267G>C | XP_016858361.1:n.410-17267G>C | |
| XM_017002873.1:c.410-17267G>C | XP_016858362.1:n.410-17267G>C | |
| XM_017002874.1:c.410-17267G>C | XP_016858363.1:n.410-17267G>C | |
| XM_024451058.1:c.386-17267G>C | XP_024306826.1:n.386-17267G>C | |
| XM_024451059.1:c.410-17267G>C | XP_024306827.1:n.410-17267G>C | |
| XM_024451060.1:c.116-17267G>C | XP_024306828.1:n.116-17267G>C | |
| XM_024451061.1:c.116-17267G>C | XP_024306829.1:n.116-17267G>C | |
| XM_024451062.1:c.410-17267G>C | XP_024306830.1:n.410-17267G>C | |
| XM_024451063.1:c.410-17267G>C | XP_024306831.1:n.410-17267G>C | |
| XM_024451064.1:c.410-17267G>C | XP_024306832.1:n.410-17267G>C |