Linked Data
dbSNP Id:
rs1273658187
gnomAD v2:
12-56347808-G-T
gnomAD v3:
12-55954024-G-T
gnomAD v4:
12-55954024-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55954024G>T , CM000674.2:g.55954024G>T | GRCh38 |
| NC_000012.11:g.56347808G>T , CM000674.1:g.56347808G>T | GRCh37 |
| NC_000012.10:g.54634075G>T | NCBI36 |
| NG_028086.1:g.17689C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402956.7:c.*1631G>T | ENSP00000385792.3:n.*1631G>T | |
| ENST00000551156.5:c.*256G>T | ENSP00000450359.1:n.*256G>T | |
| XM_005268688.1:c.*256G>T | XP_005268745.1:n.*256G>T | |
| XM_005268689.1:c.*256G>T | XP_005268746.1:n.*256G>T | |
| XM_005268690.1:c.*256G>T | XP_005268747.1:n.*256G>T | |
| XM_011537990.1:c.*256G>T | XP_011536292.1:n.*256G>T | |
| XM_011537991.1:c.*256G>T | XP_011536293.1:n.*256G>T | |
| XM_011537992.1:c.*256G>T | XP_011536294.1:n.*256G>T | |
| XM_011537993.1:c.*256G>T | XP_011536295.1:n.*256G>T | |
| XM_011537994.1:c.*256G>T | XP_011536296.1:n.*256G>T | |
| XM_011537995.1:c.*256G>T | XP_011536297.1:n.*256G>T |