Linked Data
dbSNP Id:
rs866285478
gnomAD v2:
12-10170344-C-G
gnomAD v3:
12-10017745-C-G
gnomAD v4:
12-10017745-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10017745C>G , CM000674.2:g.10017745C>G | GRCh38 |
| NC_000012.11:g.10170344C>G , CM000674.1:g.10170344C>G | GRCh37 |
| NC_000012.10:g.10061611C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338896.11:c.681-586C>G MANE Select | ENSP00000344563.5:n.681-586C>G | |
| ENST00000338896.10:c.681-586C>G | ENSP00000344563.5:n.681-586C>G | |
| ENST00000338896.9:c.681-586C>G | ENSP00000344563.5:n.681-586C>G | |
| ENST00000396502.5:c.*1999C>G | ENSP00000379759.1:n.*1999C>G | |
| ENST00000539155.1:c.*2492C>G | ENSP00000444909.1:n.*2492C>G | |
| ENST00000544853.5:c.*129-586C>G | ENSP00000439561.1:n.*129-586C>G | |
| NM_001129998.1:c.681-586C>G | NP_001123470.1:n.681-586C>G | |
| NM_205852.2:c.*1999C>G | NP_995324.2:n.*1999C>G | |
| NR_120484.1:n.249-1972G>C | ||
| XM_006719070.2:c.681-673C>G | XP_006719133.1:n.681-673C>G | |
| XM_006719071.2:c.*3-586C>G | XP_006719134.1:n.*3-586C>G | |
| XM_006719072.1:c.*772C>G | XP_006719135.1:n.*772C>G | |
| XM_011520658.1:c.654-586C>G | XP_011518960.1:n.654-586C>G | |
| XM_011520659.1:c.*748C>G | XP_011518961.1:n.*748C>G | |
| XM_011520660.1:c.*743C>G | XP_011518962.1:n.*743C>G | |
| XM_011520661.1:c.*10-586C>G | XP_011518963.1:n.*10-586C>G | |
| XM_011520662.1:c.*779C>G | XP_011518964.1:n.*779C>G | |
| XM_011520663.1:c.526-586C>G | XP_011518965.1:n.526-586C>G | |
| XM_011520664.1:c.526-673C>G | XP_011518966.1:n.526-673C>G | |
| XR_242889.3:n.956-586C>G | ||
| XR_931290.1:n.1725C>G | ||
| NM_001129998.2:c.681-586C>G | NP_001123470.1:n.681-586C>G | |
| NM_001319241.1:c.372-586C>G | NP_001306170.1:n.372-586C>G | |
| NM_001319242.1:c.*1999C>G | NP_001306171.1:n.*1999C>G | |
| NM_205852.3:c.*1999C>G | NP_995324.2:n.*1999C>G | |
| NR_135049.1:n.961-586C>G | ||
| XM_011520658.2:c.654-586C>G | XP_011518960.1:n.654-586C>G | |
| XM_011520663.2:c.526-586C>G | XP_011518965.1:n.526-586C>G | |
| XM_017019295.1:c.372-586C>G | XP_016874784.1:n.372-586C>G | |
| XM_024448976.1:c.681-673C>G | XP_024304744.1:n.681-673C>G | |
| XM_024448977.1:c.*2006C>G | XP_024304745.1:n.*2006C>G | |
| XR_002957401.1:n.106-1597G>C | ||
| NM_001129998.3:c.681-586C>G MANE Select | NP_001123470.1:n.681-586C>G | |
| NM_001387138.1:c.681-673C>G | NP_001374067.1:n.681-673C>G | |
| NR_169587.1:n.258-1597G>C |