Linked Data
ClinVar Variation Id:
378077
dbSNP Id:
rs201352065
ExAC:
5:145502161 G / A
gnomAD v2:
5-145502161-G-A
gnomAD v3:
5-146122598-G-A
gnomAD v4:
5-146122598-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146122598G>A , CM000667.2:g.146122598G>A | GRCh38 |
| NC_000005.9:g.145502161G>A , CM000667.1:g.145502161G>A | GRCh37 |
| NC_000005.8:g.145482354G>A | NCBI36 |
| NG_042294.1:g.65134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394434.7:c.3097-11C>T MANE Select | ENSP00000377954.2:n.3097-11C>T | |
| ENST00000504323.6:n.3527-11C>T | ||
| ENST00000506231.6:n.5979-11C>T | ||
| ENST00000674158.1:c.2716-11C>T | ENSP00000501474.1:n.2716-11C>T | |
| ENST00000674170.1:c.*1535-11C>T | ENSP00000501381.1:n.*1535-11C>T | |
| ENST00000674174.1:c.2935-11C>T | ENSP00000501434.1:n.2935-11C>T | |
| ENST00000674181.1:c.1344-11C>T | ||
| ENST00000674191.1:c.2641-11C>T | ENSP00000501478.1:n.2641-11C>T | |
| ENST00000674218.1:n.5884-11C>T | ||
| ENST00000674270.1:c.2959-11C>T | ENSP00000501365.1:n.2959-11C>T | |
| ENST00000674277.1:c.2932-11C>T | ENSP00000501510.1:n.2932-11C>T | |
| ENST00000674290.1:c.3061-11C>T | ENSP00000501435.1:n.3061-11C>T | |
| ENST00000674309.1:c.*453-11C>T | ENSP00000501400.1:n.*453-11C>T | |
| ENST00000674310.1:c.3097-11C>T | ENSP00000501486.1:n.3097-11C>T | |
| ENST00000674383.1:n.5750-11C>T | ||
| ENST00000674398.1:c.3094-11C>T | ENSP00000501476.1:n.3094-11C>T | |
| ENST00000674447.1:c.3016-11C>T | ENSP00000501376.1:n.3016-11C>T | |
| ENST00000674467.1:c.*1019-11C>T | ENSP00000501351.1:n.*1019-11C>T | |
| ENST00000674471.1:n.3365-11C>T | ||
| ENST00000674479.1:n.4134-11C>T | ||
| ENST00000274562.13:c.1024-11C>T | ENSP00000274562.10:n.1024-11C>T | |
| ENST00000394434.6:c.3097-11C>T | ENSP00000377954.2:n.3097-11C>T | |
| ENST00000506231.5:n.3078-11C>T | ||
| ENST00000510191.5:c.2935-11C>T | ENSP00000426005.1:n.2935-11C>T | |
| NM_020117.9:c.3097-11C>T | NP_064502.9:n.3097-11C>T | |
| XM_011537655.1:c.2959-11C>T | XP_011535957.1:n.2959-11C>T | |
| XM_011537656.1:c.2935-11C>T | XP_011535958.1:n.2935-11C>T | |
| XM_011537657.1:c.2884-11C>T | XP_011535959.1:n.2884-11C>T | |
| NM_001317964.1:c.2959-11C>T | NP_001304893.1:n.2959-11C>T | |
| NM_001317965.1:c.2935-11C>T | NP_001304894.1:n.2935-11C>T | |
| NM_016460.3:c.3016-11C>T | NP_057544.2:n.3016-11C>T | |
| NM_020117.10:c.3097-11C>T | NP_064502.9:n.3097-11C>T | |
| XM_011537656.3:c.2935-11C>T | XP_011535958.1:n.2935-11C>T | |
| NM_020117.11:c.3097-11C>T MANE Select | NP_064502.9:n.3097-11C>T | |
| NM_001317964.2:c.2959-11C>T | NP_001304893.1:n.2959-11C>T | |
| NM_001317965.2:c.2935-11C>T | NP_001304894.1:n.2935-11C>T | |
| NM_016460.4:c.3016-11C>T | NP_057544.2:n.3016-11C>T |