Linked Data
ClinVar Variation Id:
305115
dbSNP Id:
rs562849665
gnomAD v2:
11-61717815-C-T
gnomAD v3:
11-61950343-C-T
gnomAD v4:
11-61950343-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61950343C>T , CM000673.2:g.61950343C>T | GRCh38 |
| NC_000011.9:g.61717815C>T , CM000673.1:g.61717815C>T | GRCh37 |
| NC_000011.8:g.61474391C>T | NCBI36 |
| NG_009033.1:g.5460C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.8:c.-121C>T | ENSP00000367282.4:n.-121C>T | |
| ENST00000534553.5:c.-296C>T | ENSP00000431189.1:n.-296C>T | |
| NM_001139443.1:c.-113C>T | NP_001132915.1:n.-113C>T | |
| NM_001300786.1:c.-113C>T | NP_001287715.1:n.-113C>T | |
| NM_001300787.1:c.-113C>T | NP_001287716.1:n.-113C>T | |
| NM_004183.3:c.-121C>T | NP_004174.1:n.-121C>T | |
| XM_005274210.2:c.-121C>T | XP_005274267.1:n.-121C>T | |
| XM_005274216.2:c.-113C>T | XP_005274273.1:n.-113C>T | |
| XM_005274218.3:c.-296C>T | XP_005274275.1:n.-296C>T | |
| XM_005274219.2:c.-121C>T | XP_005274276.1:n.-121C>T | |
| XM_005274221.2:c.-121C>T | XP_005274278.1:n.-121C>T | |
| XM_011545229.1:c.-36-1428C>T | XP_011543531.1:n.-36-1428C>T | |
| XM_011545230.1:c.59+3528C>T | XP_011543532.1:n.59+3528C>T | |
| XM_011545231.1:c.-296C>T | XP_011543533.1:n.-296C>T | |
| XM_011545232.1:c.-121C>T | XP_011543534.1:n.-121C>T | |
| NM_001363592.1:c.-121C>T | NP_001350521.1:n.-121C>T | |
| NR_134580.1:n.460C>T | ||
| XM_005274210.4:c.-121C>T | XP_005274267.1:n.-121C>T | |
| XM_005274216.4:c.-113C>T | XP_005274273.1:n.-113C>T | |
| XM_005274219.4:c.-121C>T | XP_005274276.1:n.-121C>T | |
| XM_005274221.4:c.-121C>T | XP_005274278.1:n.-121C>T | |
| XM_011545229.3:c.-36-1428C>T | XP_011543531.1:n.-36-1428C>T | |
| XM_011545230.3:c.59+3528C>T | XP_011543532.1:n.59+3528C>T | |
| XR_001747952.2:n.566C>T | ||
| XR_001747953.2:n.570C>T | ||
| XR_001747954.2:n.570C>T |