Linked Data
dbSNP Id:
rs747178993
ExAC:
1:40431238 C / T
gnomAD v2:
1-40431238-C-T
gnomAD v4:
1-39965566-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39965566C>T , CM000663.2:g.39965566C>T | GRCh38 |
| NC_000001.10:g.40431238C>T , CM000663.1:g.40431238C>T | GRCh37 |
| NC_000001.9:g.40203825C>T | NCBI36 |
| NG_053084.1:g.15455C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372811.10:c.556+17C>T MANE Select | ENSP00000361898.6:n.556+17C>T | |
| ENST00000372809.5:c.595+17C>T | ENSP00000361895.5:n.595+17C>T | |
| ENST00000372811.9:c.556+17C>T | ENSP00000361898.5:n.556+17C>T | |
| ENST00000420632.6:c.88+17C>T | ENSP00000391261.2:n.88+17C>T | |
| ENST00000434861.5:c.550+17C>T | ENSP00000407606.1:n.550+17C>T | |
| ENST00000469745.5:n.468+17C>T | ||
| ENST00000480630.5:n.1203+17C>T | ||
| ENST00000483824.5:n.691+17C>T | ||
| NM_001136493.2:c.595+17C>T | NP_001129965.1:n.595+17C>T | |
| NM_001287808.1:c.88+17C>T | NP_001274737.1:n.88+17C>T | |
| NM_001287809.1:c.445+17C>T | NP_001274738.1:n.445+17C>T | |
| NM_032793.4:c.556+17C>T | NP_116182.2:n.556+17C>T | |
| NR_109896.1:n.737+17C>T | ||
| XM_005271285.1:c.550+17C>T | XP_005271342.1:n.550+17C>T | |
| XM_011542312.1:c.556+17C>T | XP_011540614.1:n.556+17C>T | |
| XR_946783.1:n.704+17C>T | ||
| NM_001349821.1:c.550+17C>T | NP_001336750.1:n.550+17C>T | |
| NM_001349822.1:c.556+17C>T | NP_001336751.1:n.556+17C>T | |
| NM_001349823.1:c.211+17C>T | NP_001336752.1:n.211+17C>T | |
| NM_001136493.3:c.595+17C>T | NP_001129965.1:n.595+17C>T | |
| NM_001287809.2:c.445+17C>T | NP_001274738.1:n.445+17C>T | |
| NM_001349821.2:c.550+17C>T | NP_001336750.1:n.550+17C>T | |
| NM_001349822.2:c.556+17C>T | NP_001336751.1:n.556+17C>T | |
| NM_001349823.2:c.211+17C>T | NP_001336752.1:n.211+17C>T | |
| NM_032793.5:c.556+17C>T MANE Select | NP_116182.2:n.556+17C>T | |
| NR_109896.2:n.704+17C>T | ||
| NM_001287808.2:c.88+17C>T | NP_001274737.1:n.88+17C>T |