Linked Data
dbSNP Id:
rs1054611
gnomAD v2:
12-10170161-G-T
gnomAD v3:
12-10017562-G-T
gnomAD v4:
12-10017562-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10017562G>T , CM000674.2:g.10017562G>T | GRCh38 |
| NC_000012.11:g.10170161G>T , CM000674.1:g.10170161G>T | GRCh37 |
| NC_000012.10:g.10061428G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338896.11:c.681-769G>T MANE Select | ENSP00000344563.5:n.681-769G>T | |
| ENST00000338896.10:c.681-769G>T | ENSP00000344563.5:n.681-769G>T | |
| ENST00000338896.9:c.681-769G>T | ENSP00000344563.5:n.681-769G>T | |
| ENST00000396502.5:c.*1816G>T | ENSP00000379759.1:n.*1816G>T | |
| ENST00000539155.1:c.*2309G>T | ENSP00000444909.1:n.*2309G>T | |
| ENST00000544853.5:c.*129-769G>T | ENSP00000439561.1:n.*129-769G>T | |
| NM_001129998.1:c.681-769G>T | NP_001123470.1:n.681-769G>T | |
| NM_205852.2:c.*1816G>T | NP_995324.2:n.*1816G>T | |
| NR_120484.1:n.249-1789C>A | ||
| XM_006719070.2:c.681-856G>T | XP_006719133.1:n.681-856G>T | |
| XM_006719071.2:c.*3-769G>T | XP_006719134.1:n.*3-769G>T | |
| XM_006719072.1:c.*589G>T | XP_006719135.1:n.*589G>T | |
| XM_011520658.1:c.654-769G>T | XP_011518960.1:n.654-769G>T | |
| XM_011520659.1:c.*565G>T | XP_011518961.1:n.*565G>T | |
| XM_011520660.1:c.*560G>T | XP_011518962.1:n.*560G>T | |
| XM_011520661.1:c.*10-769G>T | XP_011518963.1:n.*10-769G>T | |
| XM_011520662.1:c.*596G>T | XP_011518964.1:n.*596G>T | |
| XM_011520663.1:c.526-769G>T | XP_011518965.1:n.526-769G>T | |
| XM_011520664.1:c.526-856G>T | XP_011518966.1:n.526-856G>T | |
| XR_242889.3:n.956-769G>T | ||
| XR_931290.1:n.1542G>T | ||
| NM_001129998.2:c.681-769G>T | NP_001123470.1:n.681-769G>T | |
| NM_001319241.1:c.372-769G>T | NP_001306170.1:n.372-769G>T | |
| NM_001319242.1:c.*1816G>T | NP_001306171.1:n.*1816G>T | |
| NM_205852.3:c.*1816G>T | NP_995324.2:n.*1816G>T | |
| NR_135049.1:n.961-769G>T | ||
| XM_011520658.2:c.654-769G>T | XP_011518960.1:n.654-769G>T | |
| XM_011520663.2:c.526-769G>T | XP_011518965.1:n.526-769G>T | |
| XM_017019295.1:c.372-769G>T | XP_016874784.1:n.372-769G>T | |
| XM_024448976.1:c.681-856G>T | XP_024304744.1:n.681-856G>T | |
| XM_024448977.1:c.*1823G>T | XP_024304745.1:n.*1823G>T | |
| XR_002957401.1:n.106-1414C>A | ||
| NM_001129998.3:c.681-769G>T MANE Select | NP_001123470.1:n.681-769G>T | |
| NM_001387138.1:c.681-856G>T | NP_001374067.1:n.681-856G>T | |
| NR_169587.1:n.258-1414C>A |