Linked Data
ClinVar Variation Id:
360009
dbSNP Id:
rs778219649
ExAC:
7:30651708 A / G
gnomAD v2:
7-30651708-A-G
gnomAD v3:
7-30612092-A-G
gnomAD v4:
7-30612092-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30612092A>G , CM000669.2:g.30612092A>G | GRCh38 |
| NC_000007.13:g.30651708A>G , CM000669.1:g.30651708A>G | GRCh37 |
| NC_000007.12:g.30618233A>G | NCBI36 |
| NG_007942.1:g.22528A>G , LRG_243:g.22528A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.882-4A>G MANE Select | ENSP00000373918.3:n.882-4A>G | |
| ENST00000444666.6:c.882-4A>G | ENSP00000415447.2:n.882-4A>G | |
| ENST00000470392.2:n.972-4A>G | ||
| ENST00000478124.6:n.945-4A>G | ||
| ENST00000485784.2:n.961-4A>G | ||
| ENST00000674616.1:c.*596-4A>G | ENSP00000502408.1:n.*596-4A>G | |
| ENST00000674643.1:c.882-4A>G | ENSP00000501636.1:n.882-4A>G | |
| ENST00000674734.1:n.1378-4A>G | ||
| ENST00000674737.1:c.*220-4A>G | ENSP00000502464.1:n.*220-4A>G | |
| ENST00000674807.1:c.882-4A>G | ENSP00000502814.1:n.882-4A>G | |
| ENST00000674815.1:c.513-4A>G | ENSP00000502799.1:n.513-4A>G | |
| ENST00000674851.1:c.513-4A>G | ENSP00000502451.1:n.513-4A>G | |
| ENST00000674969.1:n.2755-4A>G | ||
| ENST00000675051.1:c.681-4A>G | ENSP00000502296.1:n.681-4A>G | |
| ENST00000675529.1:c.*752-4A>G | ENSP00000501655.1:n.*752-4A>G | |
| ENST00000675587.1:n.898-4A>G | ||
| ENST00000675651.1:c.882-4A>G | ENSP00000502513.1:n.882-4A>G | |
| ENST00000675693.1:c.714-4A>G | ENSP00000502174.1:n.714-4A>G | |
| ENST00000675810.1:c.780-4A>G | ENSP00000502743.1:n.780-4A>G | |
| ENST00000675859.1:c.882-4A>G | ENSP00000502033.1:n.882-4A>G | |
| ENST00000675863.1:n.890-4A>G | ||
| ENST00000675886.1:n.6922-4A>G | ||
| ENST00000676088.1:c.*824-4A>G | ENSP00000501884.1:n.*824-4A>G | |
| ENST00000676140.1:c.882-4A>G | ENSP00000502571.1:n.882-4A>G | |
| ENST00000676164.1:c.*333-4A>G | ENSP00000501986.1:n.*333-4A>G | |
| ENST00000676210.1:c.*171-4A>G | ENSP00000502373.1:n.*171-4A>G | |
| ENST00000676259.1:c.*314-4A>G | ENSP00000501980.1:n.*314-4A>G | |
| ENST00000676403.1:c.882-4A>G | ENSP00000502681.1:n.882-4A>G | |
| ENST00000389266.7:c.882-4A>G | ENSP00000373918.3:n.882-4A>G | |
| ENST00000478124.5:n.920-4A>G | ||
| NM_001316772.1:c.720-4A>G | NP_001303701.1:n.720-4A>G | |
| NM_002047.2:c.882-4A>G , LRG_243t1:c.882-4A>G | NP_002038.2:n.882-4A>G | |
| NM_002047.3:c.882-4A>G | NP_002038.2:n.882-4A>G | |
| XM_006715686.1:c.513-4A>G | XP_006715749.1:n.513-4A>G | |
| XM_006715686.2:c.513-4A>G | XP_006715749.1:n.513-4A>G | |
| NM_002047.4:c.882-4A>G MANE Select | NP_002038.2:n.882-4A>G |