Linked Data
ClinVar Variation Id:
345749
dbSNP Id:
rs113368815
ExAC:
3:4776960 C / T
gnomAD v2:
3-4776960-C-T
gnomAD v3:
3-4735276-C-T
gnomAD v4:
3-4735276-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4735276C>T , CM000665.2:g.4735276C>T | GRCh38 |
| NC_000003.11:g.4776960C>T , CM000665.1:g.4776960C>T | GRCh37 |
| NC_000003.10:g.4751960C>T | NCBI36 |
| NG_016144.1:g.246929C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302640.13:c.5477C>T | ENSP00000306253.9:n.5477C>T | |
| ENST00000354582.12:c.5442C>T | ENSP00000346595.8:p.Asn1814= | |
| ENST00000443694.5:c.5421C>T | ENSP00000401671.2:p.Asn1807= | |
| ENST00000354582.11:c.5442C>T | ENSP00000346595.8:p.Asn1814= | |
| ENST00000357086.10:c.5322C>T | ENSP00000349597.4:p.Asn1774= | |
| ENST00000443694.4:c.5421C>T | ENSP00000401671.2:p.Asn1807= | |
| ENST00000456211.8:c.5277C>T | ENSP00000397885.2:p.Asn1759= | |
| ENST00000544951.6:c.997-70827C>T | ENSP00000440564.1:n.997-70827C>T | |
| ENST00000647708.1:c.1365C>T | ||
| ENST00000647717.1:n.2970C>T | ||
| ENST00000648016.1:c.1801C>T | ||
| ENST00000648038.1:c.3228C>T | ENSP00000497872.1:p.Asn1076= | |
| ENST00000648212.1:c.2374C>T | ||
| ENST00000648266.1:c.5439C>T | ENSP00000498014.1:p.Asn1813= | |
| ENST00000648309.1:c.5394C>T | ENSP00000497026.1:p.Asn1798= | |
| ENST00000648390.1:c.446+23408C>T | ||
| ENST00000648431.1:c.2768C>T | ||
| ENST00000648564.1:c.712C>T | ||
| ENST00000649015.2:c.5466C>T MANE Select | ENSP00000497605.1:p.Asn1822= | |
| ENST00000649144.1:n.514C>T | ||
| ENST00000649414.1:c.1041C>T | ENSP00000497099.1:p.Asn347= | |
| ENST00000649694.1:n.2951C>T | ||
| ENST00000650294.1:c.5424C>T | ENSP00000498056.1:p.Asn1808= | |
| ENST00000302640.12:c.5421C>T | ENSP00000306253.8:p.Asn1807= | |
| ENST00000354582.10:c.5466C>T | ENSP00000346595.7:p.Asn1822= | |
| ENST00000357086.9:c.5322C>T | ENSP00000349597.4:p.Asn1774= | |
| ENST00000443694.3:c.5421C>T | ENSP00000401671.2:p.Asn1807= | |
| ENST00000456211.7:c.5277C>T | ENSP00000397885.2:p.Asn1759= | |
| ENST00000487016.1:n.348C>T | ||
| ENST00000544951.5:c.997-70827C>T | ENSP00000440564.1:n.997-70827C>T | |
| NM_001099952.2:c.5322C>T | NP_001093422.2:p.Asn1774= | |
| NM_001168272.1:c.5421C>T | NP_001161744.1:p.Asn1807= | |
| NM_002222.5:c.5277C>T | NP_002213.5:p.Asn1759= | |
| XM_005265109.2:c.5397C>T | XP_005265166.1:p.Asn1799= | |
| XM_005265110.2:c.5349C>T | XP_005265167.1:p.Asn1783= | |
| XM_006713131.2:c.5400C>T | XP_006713194.1:p.Asn1800= | |
| XM_011533681.1:c.5469C>T | XP_011531983.1:p.Asn1823= | |
| XM_011533682.1:c.5469C>T | XP_011531984.1:p.Asn1823= | |
| XM_011533683.1:c.5466C>T | XP_011531985.1:p.Asn1822= | |
| XM_011533684.1:c.5442C>T | XP_011531986.1:p.Asn1814= | |
| XM_011533685.1:c.5436C>T | XP_011531987.1:p.Asn1812= | |
| XM_011533686.1:c.5433C>T | XP_011531988.1:p.Asn1811= | |
| XM_011533687.1:c.5424C>T | XP_011531989.1:p.Asn1808= | |
| XM_011533688.1:c.5397C>T | XP_011531990.1:p.Asn1799= | |
| XM_011533689.1:c.5469C>T | XP_011531991.1:p.Asn1823= | |
| XM_011533690.1:c.5469C>T | XP_011531992.1:p.Asn1823= | |
| XM_011533691.1:c.5469C>T | XP_011531993.1:p.Asn1823= | |
| XM_011533692.1:c.5469C>T | XP_011531994.1:p.Asn1823= | |
| XM_005265109.3:c.5397C>T | XP_005265166.1:p.Asn1799= | |
| XM_005265110.3:c.5349C>T | XP_005265167.1:p.Asn1783= | |
| XM_006713131.3:c.5400C>T | XP_006713194.1:p.Asn1800= | |
| XM_011533682.3:c.5469C>T | XP_011531984.1:p.Asn1823= | |
| XM_011533683.3:c.5466C>T | XP_011531985.1:p.Asn1822= | |
| XM_011533684.2:c.5442C>T | XP_011531986.1:p.Asn1814= | |
| XM_011533685.2:c.5436C>T | XP_011531987.1:p.Asn1812= | |
| XM_011533686.2:c.5433C>T | XP_011531988.1:p.Asn1811= | |
| XM_011533687.2:c.5424C>T | XP_011531989.1:p.Asn1808= | |
| XM_011533688.2:c.5397C>T | XP_011531990.1:p.Asn1799= | |
| XM_011533690.2:c.5469C>T | XP_011531992.1:p.Asn1823= | |
| XM_011533692.2:c.5469C>T | XP_011531994.1:p.Asn1823= | |
| XM_017006357.2:c.5466C>T | XP_016861846.1:p.Asn1822= | |
| XM_017006358.1:c.5466C>T | XP_016861847.1:p.Asn1822= | |
| NM_001099952.3:c.5322C>T | NP_001093422.2:p.Asn1774= | |
| NM_002222.6:c.5277C>T | NP_002213.5:p.Asn1759= | |
| NM_001099952.4:c.5322C>T | NP_001093422.2:p.Asn1774= | |
| NM_001168272.2:c.5421C>T | NP_001161744.1:p.Asn1807= | |
| NM_001378452.1:c.5466C>T MANE Select | NP_001365381.1:p.Asn1822= | |
| NM_002222.7:c.5277C>T | NP_002213.5:p.Asn1759= |