Linked Data
ClinVar Variation Id:
134741
dbSNP Id:
rs12674022
ExAC:
7:151947973 T / C
gnomAD v2:
7-151947973-T-C
gnomAD v3:
7-152250888-T-C
gnomAD v4:
7-152250888-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152250888T>C , CM000669.2:g.152250888T>C | GRCh38 |
| NC_000007.13:g.151947973T>C , CM000669.1:g.151947973T>C | GRCh37 |
| NC_000007.12:g.151578906T>C | NCBI36 |
| NG_033948.1:g.190118A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682280.1:n.1721A>G | ||
| ENST00000682283.1:c.1700A>G | ENSP00000507485.1:p.Asn567Ser | |
| ENST00000682916.1:c.818A>G | ENSP00000506784.1:p.Asn273Ser | |
| ENST00000683038.1:n.1025A>G | ||
| ENST00000683490.1:c.1700A>G | ENSP00000507385.1:p.Asn567Ser | |
| ENST00000683616.1:c.1703A>G | ENSP00000507332.1:p.Asn568Ser | |
| ENST00000684550.1:c.1700A>G | ENSP00000507135.1:p.Asn567Ser | |
| ENST00000262189.11:c.1700A>G MANE Select | ENSP00000262189.6:p.Asn567Ser | |
| ENST00000679645.1:c.1700A>G | ENSP00000505745.1:p.Asn567Ser | |
| ENST00000679882.1:c.1700A>G | ENSP00000506154.1:p.Asn567Ser | |
| ENST00000680039.1:c.*2423A>G | ENSP00000506132.1:n.*2423A>G | |
| ENST00000681033.1:c.401A>G | ENSP00000505058.1:p.Asn134Ser | |
| ENST00000262189.10:c.1700A>G | ENSP00000262189.6:p.Asn567Ser | |
| ENST00000355193.6:c.1700A>G | ENSP00000347325.3:p.Asn567Ser | |
| ENST00000558084.5:c.1700A>G | ENSP00000453752.1:p.Asn567Ser | |
| NM_170606.2:c.1700A>G | NP_733751.2:p.Asn567Ser | |
| XM_005250025.3:c.1703A>G | XP_005250082.1:p.Asn568Ser | |
| XM_005250026.2:c.1700A>G | XP_005250083.1:p.Asn567Ser | |
| XM_005250027.3:c.1703A>G | XP_005250084.1:p.Asn568Ser | |
| XM_005250028.3:c.1703A>G | XP_005250085.1:p.Asn568Ser | |
| XM_005250031.3:c.1703A>G | XP_005250088.1:p.Asn568Ser | |
| XM_006716077.2:c.1703A>G | XP_006716140.1:p.Asn568Ser | |
| XM_006716078.2:c.1703A>G | XP_006716141.1:p.Asn568Ser | |
| XM_006716079.2:c.1703A>G | XP_006716142.1:p.Asn568Ser | |
| XM_011516450.1:c.1703A>G | XP_011514752.1:p.Asn568Ser | |
| XM_011516451.1:c.1703A>G | XP_011514753.1:p.Asn568Ser | |
| XM_011516452.1:c.1703A>G | XP_011514754.1:p.Asn568Ser | |
| XM_011516453.1:c.1703A>G | XP_011514755.1:p.Asn568Ser | |
| XM_011516454.1:c.788A>G | XP_011514756.1:p.Asn263Ser | |
| XM_011516456.1:c.1703A>G | XP_011514758.1:p.Asn568Ser | |
| XR_428183.2:n.1911A>G | ||
| XM_005250025.4:c.1703A>G | XP_005250082.1:p.Asn568Ser | |
| XM_005250026.3:c.1700A>G | XP_005250083.1:p.Asn567Ser | |
| XM_005250027.4:c.1703A>G | XP_005250084.1:p.Asn568Ser | |
| XM_005250028.4:c.1703A>G | XP_005250085.1:p.Asn568Ser | |
| XM_005250031.4:c.1703A>G | XP_005250088.1:p.Asn568Ser | |
| XM_006716077.3:c.1703A>G | XP_006716140.1:p.Asn568Ser | |
| XM_006716078.3:c.1703A>G | XP_006716141.1:p.Asn568Ser | |
| XM_006716079.3:c.1703A>G | XP_006716142.1:p.Asn568Ser | |
| XM_011516450.2:c.1703A>G | XP_011514752.1:p.Asn568Ser | |
| XM_011516451.2:c.1703A>G | XP_011514753.1:p.Asn568Ser | |
| XM_011516452.2:c.1703A>G | XP_011514754.1:p.Asn568Ser | |
| XM_011516453.2:c.1703A>G | XP_011514755.1:p.Asn568Ser | |
| XM_011516454.2:c.788A>G | XP_011514756.1:p.Asn263Ser | |
| XM_011516456.2:c.1703A>G | XP_011514758.1:p.Asn568Ser | |
| XM_017012480.1:c.1703A>G | XP_016867969.1:p.Asn568Ser | |
| XM_017012481.1:c.1700A>G | XP_016867970.1:p.Asn567Ser | |
| XM_017012482.1:c.1703A>G | XP_016867971.1:p.Asn568Ser | |
| XM_017012483.1:c.1703A>G | XP_016867972.1:p.Asn568Ser | |
| XM_017012484.1:c.1670A>G | XP_016867973.1:p.Asn557Ser | |
| XM_017012485.1:c.1700A>G | XP_016867974.1:p.Asn567Ser | |
| XM_017012486.1:c.1703A>G | XP_016867975.1:p.Asn568Ser | |
| XM_017012487.1:c.1556A>G | XP_016867976.1:p.Asn519Ser | |
| XM_017012488.1:c.1703A>G | XP_016867977.1:p.Asn568Ser | |
| XM_024446852.1:c.1703A>G | XP_024302620.1:p.Asn568Ser | |
| XM_024446853.1:c.1703A>G | XP_024302621.1:p.Asn568Ser | |
| XR_428183.3:n.1935A>G | ||
| NM_170606.3:c.1700A>G MANE Select | NP_733751.2:p.Asn567Ser |