Linked Data
ClinVar Variation Id:
304569
dbSNP Id:
rs58861092
gnomAD v2:
11-44117409-G-T
gnomAD v3:
11-44095859-G-T
gnomAD v4:
11-44095859-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44095859G>T , CM000673.2:g.44095859G>T | GRCh38 |
| NC_000011.9:g.44117409G>T , CM000673.1:g.44117409G>T | GRCh37 |
| NC_000011.8:g.44073985G>T | NCBI36 |
| NG_007560.1:g.5311G>T , LRG_494:g.5311G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343631.4:c.-128+7G>T | ENSP00000342656.3:n.-128+7G>T | |
| ENST00000395673.8:c.-70+7G>T | ENSP00000379032.4:n.-70+7G>T | |
| ENST00000531161.6:n.129+7G>T | ||
| ENST00000682359.1:c.-31+7G>T | ENSP00000508226.1:n.-31+7G>T | |
| ENST00000682711.1:c.-544+7G>T | ENSP00000506803.1:n.-544+7G>T | |
| ENST00000682815.1:c.-31+7G>T | ENSP00000507234.1:n.-31+7G>T | |
| ENST00000682993.1:c.-31+7G>T | ENSP00000507580.1:n.-31+7G>T | |
| ENST00000683000.1:c.-237+7G>T | ENSP00000508361.1:n.-237+7G>T | |
| ENST00000683870.1:c.-31+7G>T | ENSP00000507922.1:n.-31+7G>T | |
| ENST00000684039.1:c.-31+7G>T | ENSP00000507677.1:n.-31+7G>T | |
| ENST00000684124.1:c.-31+7G>T | ENSP00000508332.1:n.-31+7G>T | |
| ENST00000684533.1:c.-31+7G>T | ENSP00000507915.1:n.-31+7G>T | |
| ENST00000533608.7:c.-31+7G>T MANE Select | ENSP00000431173.2:n.-31+7G>T | |
| ENST00000358681.8:c.-31+7G>T | ENSP00000351509.4:n.-31+7G>T | |
| ENST00000527014.1:c.-70+7G>T | ENSP00000434716.1:n.-70+7G>T | |
| ENST00000532479.1:c.-254+7G>T | ENSP00000433827.1:n.-254+7G>T | |
| ENST00000533608.5:c.-31+7G>T | ENSP00000431173.1:n.-31+7G>T | |
| NM_001178083.1:c.-31+7G>T | NP_001171554.1:n.-31+7G>T | |
| NM_207122.1:c.-31+7G>T , LRG_494t2:c.-31+7G>T | NP_997005.1:n.-31+7G>T | |
| XM_011519951.1:c.-31+7G>T | XP_011518253.1:n.-31+7G>T | |
| NM_001178083.2:c.-31+7G>T | NP_001171554.1:n.-31+7G>T | |
| NM_207122.2:c.-31+7G>T MANE Select | NP_997005.1:n.-31+7G>T | |
| NM_001178083.3:c.-31+7G>T | NP_001171554.1:n.-31+7G>T | |
| NM_001389630.1:c.-70+7G>T | NP_001376559.1:n.-70+7G>T |