Linked Data
dbSNP Id:
rs11206244
ExAC:
1:54375701 C / T
gnomAD v2:
1-54375701-C-T
gnomAD v3:
1-53910028-C-T
gnomAD v4:
1-53910028-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53910028C>T , CM000663.2:g.53910028C>T | GRCh38 |
| NC_000001.10:g.54375701C>T , CM000663.1:g.54375701C>T | GRCh37 |
| NC_000001.9:g.54148289C>T | NCBI36 |
| NG_023306.1:g.20841C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361921.8:c.*29C>T MANE Select | ENSP00000354643.4:n.*29C>T | |
| ENST00000322679.10:c.*93C>T | ENSP00000323198.6:n.*93C>T | |
| ENST00000361921.7:c.*29C>T | ENSP00000354643.3:n.*29C>T | |
| ENST00000525044.5:c.*221C>T | ENSP00000436550.1:n.*221C>T | |
| ENST00000527060.5:c.*519C>T | ENSP00000435030.1:n.*519C>T | |
| ENST00000528946.5:c.*157C>T | ENSP00000433891.1:n.*157C>T | |
| ENST00000530084.5:c.*421C>T | ENSP00000431999.1:n.*421C>T | |
| ENST00000610607.4:c.*438C>T | ENSP00000483367.1:n.*438C>T | |
| ENST00000613679.4:c.*29C>T | ENSP00000479755.1:n.*29C>T | |
| ENST00000617230.2:c.*93C>T | ENSP00000481665.1:n.*93C>T | |
| NM_000792.5:c.*29C>T | NP_000783.2:n.*29C>T | |
| NM_001039715.1:c.*29C>T | NP_001034804.1:n.*29C>T | |
| NM_001039716.1:c.*93C>T | NP_001034805.1:n.*93C>T | |
| NM_213593.3:c.*29C>T | NP_998758.1:n.*29C>T | |
| NM_000792.6:c.*29C>T | NP_000783.2:n.*29C>T | |
| NM_001039715.2:c.*29C>T | NP_001034804.1:n.*29C>T | |
| NM_001039716.2:c.*93C>T | NP_001034805.1:n.*93C>T | |
| NM_001324316.1:c.*93C>T | NP_001311245.1:n.*93C>T | |
| NM_213593.4:c.*29C>T | NP_998758.1:n.*29C>T | |
| NR_136692.1:n.694C>T | ||
| NR_136693.1:n.720C>T | ||
| NM_000792.7:c.*29C>T MANE Select | NP_000783.2:n.*29C>T | |
| NM_001039715.3:c.*29C>T | NP_001034804.1:n.*29C>T | |
| NM_001039716.3:c.*93C>T | NP_001034805.1:n.*93C>T | |
| NM_001324316.2:c.*93C>T | NP_001311245.1:n.*93C>T | |
| NM_213593.5:c.*29C>T | NP_998758.1:n.*29C>T | |
| NR_136692.2:n.694C>T | ||
| NR_136693.2:n.720C>T |