Linked Data
ClinVar Variation Id:
719408
ClinVar RCV Id:
RCV000892541
dbSNP Id:
rs142972537
ExAC:
3:37365173 A / T
gnomAD v2:
3-37365173-A-T
gnomAD v3:
3-37323682-A-T
gnomAD v4:
3-37323682-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37323682A>T , CM000665.2:g.37323682A>T | GRCh38 |
| NC_000003.11:g.37365173A>T , CM000665.1:g.37365173A>T | GRCh37 |
| NC_000003.10:g.37340177A>T | NCBI36 |
| NG_047053.1:g.85492A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431105.2:c.1961A>T | ENSP00000392907.2:p.Asn654Ile | |
| ENST00000437131.2:c.1862A>T | ENSP00000405842.2:p.Asn621Ile | |
| ENST00000699994.1:c.1862A>T | ENSP00000514744.1:p.Asn621Ile | |
| ENST00000699995.1:c.1862A>T | ENSP00000514745.1:p.Asn621Ile | |
| ENST00000699996.1:c.1862A>T | ENSP00000514746.1:p.Asn621Ile | |
| ENST00000706568.1:c.*961A>T | ENSP00000516453.1:n.*961A>T | |
| ENST00000706569.1:c.1961A>T | ENSP00000516454.1:p.Asn654Ile | |
| ENST00000361924.7:c.1796A>T MANE Select | ENSP00000354486.2:p.Asn599Ile | |
| ENST00000356847.8:c.1862A>T | ENSP00000349305.4:p.Asn621Ile | |
| ENST00000361924.6:c.1796A>T | ENSP00000354486.2:p.Asn599Ile | |
| ENST00000429018.5:c.479A>T | ENSP00000403009.1:p.Asn160Ile | |
| ENST00000437131.1:c.1409A>T | ENSP00000405842.1:p.Asn470Ile | |
| ENST00000444882.5:c.477+41410A>T | ENSP00000406894.1:n.477+41410A>T | |
| NM_001172713.1:c.1862A>T | NP_001166184.1:p.Asn621Ile | |
| NM_002078.4:c.1796A>T | NP_002069.2:p.Asn599Ile | |
| XM_005265069.3:c.1961A>T | XP_005265126.1:p.Asn654Ile | |
| XM_005265070.3:c.1961A>T | XP_005265127.1:p.Asn654Ile | |
| XM_005265071.3:c.1961A>T | XP_005265128.1:p.Asn654Ile | |
| XM_005265072.3:c.1913A>T | XP_005265129.1:p.Asn638Ile | |
| XM_005265073.1:c.1862A>T | XP_005265130.1:p.Asn621Ile | |
| XM_005265074.1:c.1862A>T | XP_005265131.1:p.Asn621Ile | |
| XM_005265075.1:c.1748A>T | XP_005265132.1:p.Asn583Ile | |
| XM_006713110.2:c.1856A>T | XP_006713173.1:p.Asn619Ile | |
| XM_011533597.1:c.1439A>T | XP_011531899.1:p.Asn480Ile | |
| XM_011533598.1:c.485A>T | XP_011531900.1:p.Asn162Ile | |
| XM_011533598.3:c.485A>T | XP_011531900.1:p.Asn162Ile | |
| XM_017006184.1:c.1961A>T | XP_016861673.1:p.Asn654Ile | |
| XM_017006185.1:c.1859A>T | XP_016861674.1:p.Asn620Ile | |
| XM_017006186.1:c.1859A>T | XP_016861675.1:p.Asn620Ile | |
| XM_017006187.1:c.1814A>T | XP_016861676.1:p.Asn605Ile | |
| XM_017006188.1:c.1691A>T | XP_016861677.1:p.Asn564Ile | |
| XM_024453456.1:c.1439A>T | XP_024309224.1:p.Asn480Ile | |
| XM_024453457.1:c.1439A>T | XP_024309225.1:p.Asn480Ile | |
| XM_024453458.1:c.1391A>T | XP_024309226.1:p.Asn464Ile | |
| NM_001172713.2:c.1862A>T | NP_001166184.1:p.Asn621Ile | |
| NM_002078.5:c.1796A>T MANE Select | NP_002069.2:p.Asn599Ile |