Linked Data
ClinVar Variation Id:
356879
dbSNP Id:
rs113383614
ExAC:
6:43488354 C / T
gnomAD v2:
6-43488354-C-T
gnomAD v3:
6-43520616-C-T
gnomAD v4:
6-43520616-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43520616C>T , CM000668.2:g.43520616C>T | GRCh38 |
| NC_000006.11:g.43488354C>T , CM000668.1:g.43488354C>T | GRCh37 |
| NC_000006.10:g.43596332C>T | NCBI36 |
| NG_028283.1:g.8578C>T | |
| NG_028283.3:g.15915C>T | |
| NG_051658.1:g.60460G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607635.2:c.656-9C>T | ENSP00000496683.1:n.656-9C>T | |
| ENST00000642195.1:c.656-9C>T MANE Select | ENSP00000496044.1:n.656-9C>T | |
| ENST00000643341.1:c.656-9C>T | ENSP00000496018.1:n.656-9C>T | |
| ENST00000643799.1:c.655+189C>T | ENSP00000494529.1:n.655+189C>T | |
| ENST00000645141.1:c.*267-9C>T | ENSP00000496755.1:n.*267-9C>T | |
| ENST00000646188.1:c.491-9C>T | ENSP00000496001.1:n.491-9C>T | |
| ENST00000646433.1:c.656-9C>T | ENSP00000494368.1:n.656-9C>T | |
| ENST00000646700.1:c.656-9C>T | ENSP00000495521.1:n.656-9C>T | |
| ENST00000304004.7:c.656-9C>T | ENSP00000307212.3:n.656-9C>T | |
| ENST00000372344.6:c.655+189C>T | ENSP00000361419.2:n.655+189C>T | |
| ENST00000372389.7:c.656-9C>T | ENSP00000361465.3:n.656-9C>T | |
| ENST00000455605.2:n.1137C>T | ||
| ENST00000481352.6:n.1028-9C>T | ||
| ENST00000488601.6:n.895-9C>T | ||
| NM_203290.2:c.656-9C>T | NP_976035.1:n.656-9C>T | |
| XM_005249491.1:c.656-9C>T | XP_005249548.1:n.656-9C>T | |
| XM_011515000.1:c.656-9C>T | XP_011513302.1:n.656-9C>T | |
| NM_001318876.1:c.656-9C>T | NP_001305805.1:n.656-9C>T | |
| NM_001363658.1:c.656-9C>T | NP_001350587.1:n.656-9C>T | |
| NM_203290.3:c.656-9C>T | NP_976035.1:n.656-9C>T | |
| NM_203290.4:c.656-9C>T MANE Select | NP_976035.1:n.656-9C>T | |
| NM_001363658.2:c.656-9C>T | NP_001350587.1:n.656-9C>T | |
| NM_001318876.2:c.656-9C>T | NP_001305805.1:n.656-9C>T |