Linked Data
dbSNP Id:
rs762015042
ExAC:
20:44757699 T / C
gnomAD v2:
20-44757699-T-C
gnomAD v4:
20-46129060-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46129060T>C , CM000682.2:g.46129060T>C | GRCh38 |
| NC_000020.10:g.44757699T>C , CM000682.1:g.44757699T>C | GRCh37 |
| NC_000020.9:g.44191106T>C | NCBI36 |
| NG_007279.1:g.15794T>C , LRG_40:g.15794T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489304.6:c.937T>C | ENSP00000512096.1:n.937T>C | |
| ENST00000695675.1:n.2730T>C | ||
| ENST00000372285.8:c.*20T>C MANE Select | ENSP00000361359.3:n.*20T>C | |
| ENST00000372276.7:c.*180T>C | ENSP00000361350.3:n.*180T>C | |
| ENST00000372285.7:c.*20T>C | ENSP00000361359.3:n.*20T>C | |
| ENST00000466205.5:c.756T>C | ||
| ENST00000489304.5:n.930T>C | ||
| ENST00000620709.4:c.*401T>C | ENSP00000484074.1:n.*401T>C | |
| NM_001250.5:c.*20T>C | NP_001241.1:n.*20T>C | |
| NM_001302753.1:c.*180T>C | NP_001289682.1:n.*180T>C | |
| NM_152854.3:c.*180T>C | NP_690593.1:n.*180T>C | |
| NR_126502.1:n.947T>C | ||
| XM_005260617.2:c.*20T>C | XP_005260674.1:n.*20T>C | |
| XM_005260619.2:c.*20T>C | XP_005260676.1:n.*20T>C | |
| NM_001322421.1:c.*20T>C | NP_001309350.1:n.*20T>C | |
| NM_001322422.1:c.*20T>C | NP_001309351.1:n.*20T>C | |
| NM_001362758.1:c.*180T>C | NP_001349687.1:n.*180T>C | |
| NR_136327.1:n.850T>C | ||
| XM_005260619.3:c.*20T>C | XP_005260676.1:n.*20T>C | |
| XM_017028135.1:c.889T>C | XP_016883624.1:p.Cys297Arg | |
| XM_017028136.1:c.787T>C | XP_016883625.1:p.Cys263Arg | |
| NM_001250.6:c.*20T>C MANE Select | NP_001241.1:n.*20T>C | |
| NM_001302753.2:c.*180T>C | NP_001289682.1:n.*180T>C | |
| NM_001322421.2:c.*20T>C | NP_001309350.1:n.*20T>C | |
| NM_001322422.2:c.*20T>C | NP_001309351.1:n.*20T>C | |
| NM_001362758.2:c.*180T>C | NP_001349687.1:n.*180T>C | |
| NM_152854.4:c.*180T>C | NP_690593.1:n.*180T>C | |
| NR_126502.2:n.887T>C | ||
| NR_136327.2:n.790T>C |