Linked Data
ClinVar Variation Id:
386355
dbSNP Id:
rs376324026
ExAC:
7:30665846 G / A
gnomAD v2:
7-30665846-G-A
gnomAD v3:
7-30626230-G-A
gnomAD v4:
7-30626230-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30626230G>A , CM000669.2:g.30626230G>A | GRCh38 |
| NC_000007.13:g.30665846G>A , CM000669.1:g.30665846G>A | GRCh37 |
| NC_000007.12:g.30632371G>A | NCBI36 |
| NG_007942.1:g.36666G>A , LRG_243:g.36666G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389266.8:c.1614-4G>A MANE Select | ENSP00000373918.3:n.1614-4G>A | |
| ENST00000444666.6:c.1614-4G>A | ENSP00000415447.2:n.1614-4G>A | |
| ENST00000470392.2:n.1704-4G>A | ||
| ENST00000485784.2:n.1693-4G>A | ||
| ENST00000674616.1:c.*1328-4G>A | ENSP00000502408.1:n.*1328-4G>A | |
| ENST00000674643.1:c.*714-4G>A | ENSP00000501636.1:n.*714-4G>A | |
| ENST00000674737.1:c.*952-4G>A | ENSP00000502464.1:n.*952-4G>A | |
| ENST00000674807.1:c.1614-2330G>A | ENSP00000502814.1:n.1614-2330G>A | |
| ENST00000674815.1:c.1245-4G>A | ENSP00000502799.1:n.1245-4G>A | |
| ENST00000674851.1:c.1245-4G>A | ENSP00000502451.1:n.1245-4G>A | |
| ENST00000674969.1:n.3487-4G>A | ||
| ENST00000675051.1:c.1413-4G>A | ENSP00000502296.1:n.1413-4G>A | |
| ENST00000675529.1:c.*1484-4G>A | ENSP00000501655.1:n.*1484-4G>A | |
| ENST00000675587.1:n.2446-4G>A | ||
| ENST00000675651.1:c.1614-4G>A | ENSP00000502513.1:n.1614-4G>A | |
| ENST00000675693.1:c.1446-4G>A | ENSP00000502174.1:n.1446-4G>A | |
| ENST00000675810.1:c.1512-4G>A | ENSP00000502743.1:n.1512-4G>A | |
| ENST00000675859.1:c.1614-2330G>A | ENSP00000502033.1:n.1614-2330G>A | |
| ENST00000675863.1:n.1622-4G>A | ||
| ENST00000675886.1:n.7654-4G>A | ||
| ENST00000676088.1:c.*1556-4G>A | ENSP00000501884.1:n.*1556-4G>A | |
| ENST00000676140.1:c.*559-4G>A | ENSP00000502571.1:n.*559-4G>A | |
| ENST00000676164.1:c.*1065-4G>A | ENSP00000501986.1:n.*1065-4G>A | |
| ENST00000676210.1:c.*903-4G>A | ENSP00000502373.1:n.*903-4G>A | |
| ENST00000676259.1:c.*1046-4G>A | ENSP00000501980.1:n.*1046-4G>A | |
| ENST00000676403.1:c.1614-4G>A | ENSP00000502681.1:n.1614-4G>A | |
| ENST00000389266.7:c.1614-4G>A | ENSP00000373918.3:n.1614-4G>A | |
| ENST00000444666.5:c.135-4G>A | ENSP00000415447.1:n.135-4G>A | |
| ENST00000470392.1:n.336-4G>A | ||
| NM_001316772.1:c.1452-4G>A | NP_001303701.1:n.1452-4G>A | |
| NM_002047.2:c.1614-4G>A , LRG_243t1:c.1614-4G>A | NP_002038.2:n.1614-4G>A | |
| NM_002047.3:c.1614-4G>A | NP_002038.2:n.1614-4G>A | |
| XM_006715686.1:c.1245-4G>A | XP_006715749.1:n.1245-4G>A | |
| XM_006715686.2:c.1245-4G>A | XP_006715749.1:n.1245-4G>A | |
| NM_002047.4:c.1614-4G>A MANE Select | NP_002038.2:n.1614-4G>A |