Linked Data
dbSNP Id:
rs765500316
ExAC:
20:44757707 C / T
gnomAD v2:
20-44757707-C-T
gnomAD v3:
20-46129068-C-T
gnomAD v4:
20-46129068-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46129068C>T , CM000682.2:g.46129068C>T | GRCh38 |
| NC_000020.10:g.44757707C>T , CM000682.1:g.44757707C>T | GRCh37 |
| NC_000020.9:g.44191114C>T | NCBI36 |
| NG_007279.1:g.15802C>T , LRG_40:g.15802C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489304.6:c.945C>T | ENSP00000512096.1:n.945C>T | |
| ENST00000695675.1:n.2738C>T | ||
| ENST00000372285.8:c.*28C>T MANE Select | ENSP00000361359.3:n.*28C>T | |
| ENST00000372276.7:c.*188C>T | ENSP00000361350.3:n.*188C>T | |
| ENST00000372285.7:c.*28C>T | ENSP00000361359.3:n.*28C>T | |
| ENST00000466205.5:c.764C>T | ||
| ENST00000489304.5:n.938C>T | ||
| ENST00000620709.4:c.*409C>T | ENSP00000484074.1:n.*409C>T | |
| NM_001250.5:c.*28C>T | NP_001241.1:n.*28C>T | |
| NM_001302753.1:c.*188C>T | NP_001289682.1:n.*188C>T | |
| NM_152854.3:c.*188C>T | NP_690593.1:n.*188C>T | |
| NR_126502.1:n.955C>T | ||
| XM_005260617.2:c.*28C>T | XP_005260674.1:n.*28C>T | |
| XM_005260619.2:c.*28C>T | XP_005260676.1:n.*28C>T | |
| NM_001322421.1:c.*28C>T | NP_001309350.1:n.*28C>T | |
| NM_001322422.1:c.*28C>T | NP_001309351.1:n.*28C>T | |
| NM_001362758.1:c.*188C>T | NP_001349687.1:n.*188C>T | |
| NR_136327.1:n.858C>T | ||
| XM_005260619.3:c.*28C>T | XP_005260676.1:n.*28C>T | |
| XM_017028135.1:c.897C>T | XP_016883624.1:p.His299= | |
| XM_017028136.1:c.795C>T | XP_016883625.1:p.His265= | |
| NM_001250.6:c.*28C>T MANE Select | NP_001241.1:n.*28C>T | |
| NM_001302753.2:c.*188C>T | NP_001289682.1:n.*188C>T | |
| NM_001322421.2:c.*28C>T | NP_001309350.1:n.*28C>T | |
| NM_001322422.2:c.*28C>T | NP_001309351.1:n.*28C>T | |
| NM_001362758.2:c.*188C>T | NP_001349687.1:n.*188C>T | |
| NM_152854.4:c.*188C>T | NP_690593.1:n.*188C>T | |
| NR_126502.2:n.895C>T | ||
| NR_136327.2:n.798C>T |