Linked Data
ClinVar Variation Id:
3229610
ClinVar RCV Id:
RCV004525186
dbSNP Id:
rs779085159
ExAC:
12:40692980 C / G
gnomAD v2:
12-40692980-C-G
gnomAD v4:
12-40299178-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40299178C>G , CM000674.2:g.40299178C>G | GRCh38 |
| NC_000012.11:g.40692980C>G , CM000674.1:g.40692980C>G | GRCh37 |
| NC_000012.10:g.38979247C>G | NCBI36 |
| NG_011709.1:g.79168C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.3417C>G MANE Select | ENSP00000298910.7:p.Asn1139Lys | |
| ENST00000679360.1:c.*2326C>G | ENSP00000505368.1:n.*2326C>G | |
| ENST00000680790.1:c.3162C>G | ENSP00000505335.1:p.Asn1054Lys | |
| ENST00000298910.11:c.3417C>G | ENSP00000298910.7:p.Asn1139Lys | |
| ENST00000343742.6:c.3417C>G | ENSP00000341930.2:p.Asn1139Lys | |
| ENST00000430804.5:c.461C>G | ||
| ENST00000479187.5:n.98C>G | ||
| NM_198578.3:c.3417C>G | NP_940980.3:p.Asn1139Lys | |
| XM_005268629.2:c.3417C>G | XP_005268686.1:p.Asn1139Lys | |
| XM_011537877.1:c.3417C>G | XP_011536179.1:p.Asn1139Lys | |
| XM_011537878.1:c.3417C>G | XP_011536180.1:p.Asn1139Lys | |
| XM_011537879.1:c.2214C>G | XP_011536181.1:p.Asn738Lys | |
| XM_011537880.1:c.3417C>G | XP_011536182.1:p.Asn1139Lys | |
| XM_011537881.1:c.3417C>G | XP_011536183.1:p.Asn1139Lys | |
| XM_011537882.1:c.3417C>G | XP_011536184.1:p.Asn1139Lys | |
| XM_005268629.4:c.3417C>G | XP_005268686.1:p.Asn1139Lys | |
| XM_011537877.3:c.3417C>G | XP_011536179.1:p.Asn1139Lys | |
| XM_011537881.3:c.3417C>G | XP_011536183.1:p.Asn1139Lys | |
| XM_011537882.3:c.3417C>G | XP_011536184.1:p.Asn1139Lys | |
| XM_017018786.2:c.3417C>G | XP_016874275.1:p.Asn1139Lys | |
| XM_017018787.1:c.333C>G | XP_016874276.1:p.Asn111Lys | |
| XM_017018789.2:c.3417C>G | XP_016874278.1:p.Asn1139Lys | |
| XM_024448833.1:c.2214C>G | XP_024304601.1:p.Asn738Lys | |
| XR_001748574.2:n.3659C>G | ||
| NM_198578.4:c.3417C>G MANE Select | NP_940980.4:p.Asn1139Lys |