Linked Data
ClinVar Variation Id:
37291
dbSNP Id:
rs387907308
ExAC:
14:51211022 T / C
gnomAD v2:
14-51211022-T-C
gnomAD v3:
14-50744304-T-C
gnomAD v4:
14-50744304-T-C
PubMed:
PMID:22933543
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50744304T>C , CM000676.2:g.50744304T>C | GRCh38 |
| NC_000014.8:g.51211022T>C , CM000676.1:g.51211022T>C | GRCh37 |
| NC_000014.7:g.50280772T>C | NCBI36 |
| NG_032968.1:g.91818A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485005.2:c.2873A>G | ENSP00000431485.2:p.Asn958Ser | |
| ENST00000706704.1:n.1307A>G | ||
| ENST00000706705.1:c.*379A>G | ENSP00000516508.1:n.*379A>G | |
| ENST00000706706.1:c.2926-775A>G | ENSP00000516509.1:n.2926-775A>G | |
| ENST00000706707.1:n.2695A>G | ||
| ENST00000706709.1:n.1478A>G | ||
| ENST00000453196.6:c.5126A>G | ENSP00000412391.1:p.Asn1709Ser | |
| ENST00000530997.7:c.5126A>G MANE Select | ENSP00000436092.2:p.Asn1709Ser | |
| ENST00000673657.1:c.*1791A>G | ENSP00000501199.1:n.*1791A>G | |
| ENST00000674030.1:c.*1254A>G | ENSP00000501260.1:n.*1254A>G | |
| ENST00000245441.9:c.5126A>G | ENSP00000245441.5:p.Asn1709Ser | |
| ENST00000324330.13:c.2987A>G | ENSP00000324210.10:p.Asn996Ser | |
| ENST00000382041.7:c.5126A>G | ENSP00000371472.3:p.Asn1709Ser | |
| ENST00000382043.8:c.2987A>G | ENSP00000371474.4:p.Asn996Ser | |
| ENST00000389869.7:c.3597A>G | ||
| ENST00000453196.5:c.5126A>G | ENSP00000412391.1:p.Asn1709Ser | |
| ENST00000476352.5:c.5126A>G | ENSP00000432924.1:p.Asn1709Ser | |
| ENST00000530853.5:c.3597A>G | ||
| ENST00000530997.6:c.5126A>G | ENSP00000436092.2:p.Asn1709Ser | |
| NM_016350.4:c.2987A>G | NP_057434.4:p.Asn996Ser | |
| NM_020921.3:c.5126A>G | NP_065972.3:p.Asn1709Ser | |
| NM_182944.2:c.5126A>G | NP_891989.2:p.Asn1709Ser | |
| NM_182946.1:c.5126A>G | NP_891991.1:p.Asn1709Ser | |
| XM_005267735.3:c.2987A>G | XP_005267792.1:p.Asn996Ser | |
| XM_006720160.2:c.5126A>G | XP_006720223.2:p.Asn1709Ser | |
| XM_011536817.1:c.5216A>G | XP_011535119.1:p.Asn1739Ser | |
| XM_011536818.1:c.5126A>G | XP_011535120.1:p.Asn1709Ser | |
| XM_011536819.1:c.5216A>G | XP_011535121.1:p.Asn1739Ser | |
| XM_011536820.1:c.5216A>G | XP_011535122.1:p.Asn1739Ser | |
| XM_011536821.1:c.4460A>G | XP_011535123.1:p.Asn1487Ser | |
| XM_011536822.1:c.3077A>G | XP_011535124.1:p.Asn1026Ser | |
| XM_011536823.1:c.5144A>G | XP_011535125.1:p.Asn1715Ser | |
| XM_011536824.1:c.2987A>G | XP_011535126.1:p.Asn996Ser | |
| XM_011536819.3:c.5216A>G | XP_011535121.1:p.Asn1739Ser | |
| XM_011536822.2:c.3077A>G | XP_011535124.1:p.Asn1026Ser | |
| XM_011536823.2:c.5144A>G | XP_011535125.1:p.Asn1715Ser | |
| XM_024449622.1:c.5216A>G | XP_024305390.1:p.Asn1739Ser | |
| XR_001750344.2:n.5414A>G | ||
| XR_001750345.2:n.5414A>G | ||
| XR_001750346.2:n.5336A>G | ||
| XR_001750347.2:n.3269A>G | ||
| XR_001750348.2:n.3269A>G | ||
| XR_001750349.2:n.3197A>G | ||
| XR_001750350.2:n.3197A>G | ||
| NM_016350.5:c.2987A>G | NP_057434.4:p.Asn996Ser | |
| NM_020921.4:c.5126A>G MANE Select | NP_065972.4:p.Asn1709Ser | |
| NM_182944.3:c.5126A>G | NP_891989.3:p.Asn1709Ser | |
| NM_182946.2:c.5126A>G | NP_891991.2:p.Asn1709Ser |