Linked Data
dbSNP Id:
rs4239702
gnomAD v2:
20-44749251-T-C
gnomAD v3:
20-46120612-T-C
gnomAD v4:
20-46120612-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46120612T>C , CM000682.2:g.46120612T>C | GRCh38 |
| NC_000020.10:g.44749251T>C , CM000682.1:g.44749251T>C | GRCh37 |
| NC_000020.9:g.44182658T>C | NCBI36 |
| NG_007279.1:g.7346T>C , LRG_40:g.7346T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477696.6:c.52-1112T>C | ENSP00000512095.1:n.52-1112T>C | |
| ENST00000489304.6:c.52-1208T>C | ENSP00000512096.1:n.52-1208T>C | |
| ENST00000695669.1:n.125-1208T>C | ||
| ENST00000695670.1:n.111-1621T>C | ||
| ENST00000695671.1:c.52-1208T>C | ENSP00000512093.1:n.52-1208T>C | |
| ENST00000695672.1:n.56-1621T>C | ||
| ENST00000372285.8:c.52-1208T>C MANE Select | ENSP00000361359.3:n.52-1208T>C | |
| ENST00000372276.7:c.52-1208T>C | ENSP00000361350.3:n.52-1208T>C | |
| ENST00000372285.7:c.52-1208T>C | ENSP00000361359.3:n.52-1208T>C | |
| ENST00000466205.5:c.48-1208T>C | ||
| ENST00000477696.5:n.23-1112T>C | ||
| ENST00000489304.5:n.45-1208T>C | ||
| ENST00000620709.4:c.52-1208T>C | ENSP00000484074.1:n.52-1208T>C | |
| NM_001250.5:c.52-1208T>C | NP_001241.1:n.52-1208T>C | |
| NM_001302753.1:c.52-1208T>C | NP_001289682.1:n.52-1208T>C | |
| NM_152854.3:c.52-1208T>C | NP_690593.1:n.52-1208T>C | |
| NR_126502.1:n.142-1208T>C | ||
| XM_005260617.2:c.52-1208T>C | XP_005260674.1:n.52-1208T>C | |
| XM_005260619.2:c.52-1208T>C | XP_005260676.1:n.52-1208T>C | |
| XM_011529109.1:c.52-1208T>C | XP_011527411.1:n.52-1208T>C | |
| XR_936660.1:n.146-1208T>C | ||
| NM_001322421.1:c.52-1208T>C | NP_001309350.1:n.52-1208T>C | |
| NM_001322422.1:c.52-1208T>C | NP_001309351.1:n.52-1208T>C | |
| NM_001362758.1:c.52-1208T>C | NP_001349687.1:n.52-1208T>C | |
| NR_136327.1:n.142-1208T>C | ||
| XM_005260619.3:c.52-1208T>C | XP_005260676.1:n.52-1208T>C | |
| XM_011529109.2:c.52-1208T>C | XP_011527411.1:n.52-1208T>C | |
| XM_017028135.1:c.52-1208T>C | XP_016883624.1:n.52-1208T>C | |
| XM_017028136.1:c.52-1208T>C | XP_016883625.1:n.52-1208T>C | |
| NM_001250.6:c.52-1208T>C MANE Select | NP_001241.1:n.52-1208T>C | |
| NM_001302753.2:c.52-1208T>C | NP_001289682.1:n.52-1208T>C | |
| NM_001322421.2:c.52-1208T>C | NP_001309350.1:n.52-1208T>C | |
| NM_001322422.2:c.52-1208T>C | NP_001309351.1:n.52-1208T>C | |
| NM_001362758.2:c.52-1208T>C | NP_001349687.1:n.52-1208T>C | |
| NM_152854.4:c.52-1208T>C | NP_690593.1:n.52-1208T>C | |
| NR_126502.2:n.82-1208T>C | ||
| NR_136327.2:n.82-1208T>C |