Linked Data
ClinVar Variation Id:
2741431
ClinVar RCV Id:
RCV003540209
dbSNP Id:
rs747054162
ExAC:
7:81603857 T / C
gnomAD v2:
7-81603857-T-C
gnomAD v3:
7-81974541-T-C
gnomAD v4:
7-81974541-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81974541T>C , CM000669.2:g.81974541T>C | GRCh38 |
| NC_000007.13:g.81603857T>C , CM000669.1:g.81603857T>C | GRCh37 |
| NC_000007.12:g.81441793T>C | NCBI36 |
| NG_009358.2:g.474175A>G , LRG_437:g.474175A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443883.2:c.2003A>G | ENSP00000409374.2:p.Asn668Ser | |
| ENST00000705961.1:c.1734A>G | ||
| ENST00000705962.1:c.1847A>G | ENSP00000516190.1:p.Asn616Ser | |
| ENST00000356860.8:c.1967A>G MANE Select | ENSP00000349320.3:p.Asn656Ser | |
| ENST00000356253.9:c.2003A>G | ENSP00000348589.5:p.Asn668Ser | |
| ENST00000356860.7:c.1967A>G | ENSP00000349320.3:p.Asn656Ser | |
| ENST00000443883.1:c.499A>G | ||
| NM_000722.3:c.1967A>G | NP_000713.2:p.Asn656Ser | |
| XM_005250570.1:c.2003A>G | XP_005250627.1:p.Asn668Ser | |
| XM_005250572.1:c.1952A>G | XP_005250629.1:p.Asn651Ser | |
| XM_005250573.1:c.1946A>G | XP_005250630.1:p.Asn649Ser | |
| XM_005250574.1:c.1931A>G | XP_005250631.1:p.Asn644Ser | |
| XM_006716118.1:c.2024A>G | XP_006716181.1:p.Asn675Ser | |
| XM_006716119.2:c.1949A>G | XP_006716182.1:p.Asn650Ser | |
| XM_006716120.2:c.1907A>G | XP_006716183.1:p.Asn636Ser | |
| XM_006716121.2:c.434A>G | XP_006716184.1:p.Asn145Ser | |
| XM_011516570.1:c.2024A>G | XP_011514872.1:p.Asn675Ser | |
| XM_011516571.1:c.2009A>G | XP_011514873.1:p.Asn670Ser | |
| XM_011516572.1:c.1988A>G | XP_011514874.1:p.Asn663Ser | |
| XM_011516573.1:c.1793A>G | XP_011514875.1:p.Asn598Ser | |
| NM_001366867.1:c.2003A>G | NP_001353796.1:p.Asn668Ser | |
| XM_005250572.3:c.1952A>G | XP_005250629.1:p.Asn651Ser | |
| XM_005250573.3:c.1946A>G | XP_005250630.1:p.Asn649Ser | |
| XM_005250574.3:c.1931A>G | XP_005250631.1:p.Asn644Ser | |
| XM_006716118.3:c.2024A>G | XP_006716181.1:p.Asn675Ser | |
| XM_006716119.3:c.1949A>G | XP_006716182.1:p.Asn650Ser | |
| XM_006716120.3:c.1907A>G | XP_006716183.1:p.Asn636Ser | |
| XM_006716121.3:c.434A>G | XP_006716184.1:p.Asn145Ser | |
| XM_011516570.3:c.2024A>G | XP_011514872.1:p.Asn675Ser | |
| XM_011516571.3:c.2009A>G | XP_011514873.1:p.Asn670Ser | |
| XM_011516572.3:c.1988A>G | XP_011514874.1:p.Asn663Ser | |
| XM_017012588.1:c.1850A>G | XP_016868077.1:p.Asn617Ser | |
| XR_001744873.2:n.2044A>G | ||
| XR_001744874.2:n.1951A>G | ||
| NM_000722.4:c.1967A>G MANE Select | NP_000713.2:p.Asn656Ser |