Linked Data
ClinVar Variation Id:
717584
ClinVar RCV Id:
RCV000890402
dbSNP Id:
rs74701669
ExAC:
3:138403632 T / C
gnomAD v2:
3-138403632-T-C
gnomAD v3:
3-138684790-T-C
gnomAD v4:
3-138684790-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138684790T>C , CM000665.2:g.138684790T>C | GRCh38 |
| NC_000003.11:g.138403632T>C , CM000665.1:g.138403632T>C | GRCh37 |
| NC_000003.10:g.139886322T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674063.1:c.2150A>G MANE Select | ENSP00000501150.1:p.Asn717Ser | |
| ENST00000289153.6:c.2150A>G | ENSP00000289153.2:p.Asn717Ser | |
| ENST00000462898.5:c.*1719A>G | ENSP00000420108.1:n.*1719A>G | |
| ENST00000469284.6:c.717A>G | ENSP00000419513.2:n.717A>G | |
| ENST00000473435.1:c.733-1003A>G | ENSP00000419091.1:n.733-1003A>G | |
| ENST00000477593.5:c.2150A>G | ENSP00000418143.1:p.Asn717Ser | |
| ENST00000481749.5:n.1032A>G | ||
| ENST00000485060.1:n.337A>G | ||
| ENST00000493568.5:c.1045A>G | ||
| ENST00000544716.5:c.488A>G | ENSP00000438259.1:p.Asn163Ser | |
| NM_001256045.1:c.686A>G | NP_001242974.1:p.Asn229Ser | |
| NM_006219.2:c.2150A>G | NP_006210.1:p.Asn717Ser | |
| XM_005247530.2:c.2150A>G | XP_005247587.1:p.Asn717Ser | |
| XM_006713659.2:c.2150A>G | XP_006713722.1:p.Asn717Ser | |
| XM_011512895.1:c.2150A>G | XP_011511197.1:p.Asn717Ser | |
| XM_011512896.1:c.1646A>G | XP_011511198.1:p.Asn549Ser | |
| XM_006713659.3:c.2150A>G | XP_006713722.1:p.Asn717Ser | |
| XM_011512895.2:c.2150A>G | XP_011511197.1:p.Asn717Ser | |
| XM_017006619.1:c.2150A>G | XP_016862108.1:p.Asn717Ser | |
| XM_017006621.2:c.911A>G | XP_016862110.1:p.Asn304Ser | |
| XM_024453596.1:c.1928A>G | XP_024309364.1:p.Asn643Ser | |
| XM_024453597.1:c.962A>G | XP_024309365.1:p.Asn321Ser | |
| XR_002959542.1:n.1895A>G | ||
| NM_006219.3:c.2150A>G MANE Select | NP_006210.1:p.Asn717Ser | |
| NM_001256045.2:c.686A>G | NP_001242974.1:p.Asn229Ser |