Linked Data
ClinVar Variation Id:
9208
dbSNP Id:
rs137852647
ExAC:
7:30665896 G / A
gnomAD v2:
7-30665896-G-A
gnomAD v3:
7-30626280-G-A
gnomAD v4:
7-30626280-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30626280G>A , CM000669.2:g.30626280G>A | GRCh38 |
| NC_000007.13:g.30665896G>A , CM000669.1:g.30665896G>A | GRCh37 |
| NC_000007.12:g.30632421G>A | NCBI36 |
| NG_007942.1:g.36716G>A , LRG_243:g.36716G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1660G>A MANE Select | ENSP00000373918.3:p.Asp554Asn | |
| ENST00000444666.6:c.1660G>A | ENSP00000415447.2:p.Asp554Asn | |
| ENST00000470392.2:n.1750G>A | ||
| ENST00000485784.2:n.1739G>A | ||
| ENST00000674616.1:c.*1374G>A | ENSP00000502408.1:n.*1374G>A | |
| ENST00000674643.1:c.*760G>A | ENSP00000501636.1:n.*760G>A | |
| ENST00000674737.1:c.*998G>A | ENSP00000502464.1:n.*998G>A | |
| ENST00000674807.1:c.1614-2280G>A | ENSP00000502814.1:n.1614-2280G>A | |
| ENST00000674815.1:c.1291G>A | ENSP00000502799.1:p.Asp431Asn | |
| ENST00000674851.1:c.1291G>A | ENSP00000502451.1:p.Asp431Asn | |
| ENST00000674969.1:n.3533G>A | ||
| ENST00000675051.1:c.1459G>A | ENSP00000502296.1:p.Asp487Asn | |
| ENST00000675529.1:c.*1530G>A | ENSP00000501655.1:n.*1530G>A | |
| ENST00000675587.1:n.2492G>A | ||
| ENST00000675651.1:c.1660G>A | ENSP00000502513.1:p.Asp554Asn | |
| ENST00000675693.1:c.1492G>A | ENSP00000502174.1:p.Asp498Asn | |
| ENST00000675810.1:c.1558G>A | ENSP00000502743.1:p.Asp520Asn | |
| ENST00000675859.1:c.1614-2280G>A | ENSP00000502033.1:n.1614-2280G>A | |
| ENST00000675863.1:n.1668G>A | ||
| ENST00000675886.1:n.7700G>A | ||
| ENST00000676088.1:c.*1602G>A | ENSP00000501884.1:n.*1602G>A | |
| ENST00000676140.1:c.*605G>A | ENSP00000502571.1:n.*605G>A | |
| ENST00000676164.1:c.*1111G>A | ENSP00000501986.1:n.*1111G>A | |
| ENST00000676210.1:c.*949G>A | ENSP00000502373.1:n.*949G>A | |
| ENST00000676259.1:c.*1092G>A | ENSP00000501980.1:n.*1092G>A | |
| ENST00000676403.1:c.1660G>A | ENSP00000502681.1:p.Asp554Asn | |
| ENST00000389266.7:c.1660G>A | ENSP00000373918.3:p.Asp554Asn | |
| ENST00000444666.5:c.181G>A | ENSP00000415447.1:p.Asp61Asn | |
| ENST00000470392.1:n.382G>A | ||
| NM_001316772.1:c.1498G>A | NP_001303701.1:p.Asp500Asn | |
| NM_002047.2:c.1660G>A , LRG_243t1:c.1660G>A | NP_002038.2:p.Asp554Asn | |
| NM_002047.3:c.1660G>A | NP_002038.2:p.Asp554Asn | |
| XM_006715686.1:c.1291G>A | XP_006715749.1:p.Asp431Asn | |
| XM_006715686.2:c.1291G>A | XP_006715749.1:p.Asp431Asn | |
| NM_002047.4:c.1660G>A MANE Select | NP_002038.2:p.Asp554Asn |