Linked Data
ClinVar Variation Id:
128830
dbSNP Id:
rs1129617
ExAC:
4:84188850 G / A
gnomAD v2:
4-84188850-G-A
gnomAD v3:
4-83267697-G-A
gnomAD v4:
4-83267697-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.83267697G>A , CM000666.2:g.83267697G>A | GRCh38 |
| NC_000004.11:g.84188850G>A , CM000666.1:g.84188850G>A | GRCh37 |
| NC_000004.10:g.84407874G>A | NCBI36 |
| NG_015825.1:g.22218C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311469.9:c.990C>T | ENSP00000310873.4:p.Ser330= | |
| ENST00000647002.2:c.840C>T MANE Select | ENSP00000495761.2:p.Ser280= | |
| ENST00000311461.7:c.840C>T | ENSP00000311835.7:p.Ser280= | |
| ENST00000311469.8:c.990C>T | ENSP00000310873.4:p.Ser330= | |
| ENST00000503391.5:c.*64C>T | ENSP00000426242.1:n.*64C>T | |
| ENST00000503915.5:c.531C>T | ENSP00000427146.1:p.Ser177= | |
| NM_015697.7:c.990C>T | NP_056512.5:p.Ser330= | |
| XM_011531855.1:c.990C>T | XP_011530157.1:p.Ser330= | |
| XM_011531856.1:c.990C>T | XP_011530158.1:p.Ser330= | |
| XM_011531857.1:c.990C>T | XP_011530159.1:p.Ser330= | |
| XM_011531858.1:c.990C>T | XP_011530160.1:p.Ser330= | |
| XM_011531859.1:c.990C>T | XP_011530161.1:p.Ser330= | |
| XM_011531860.1:c.990C>T | XP_011530162.1:p.Ser330= | |
| XM_011531861.1:c.990C>T | XP_011530163.1:p.Ser330= | |
| XM_011531862.1:c.990C>T | XP_011530164.1:p.Ser330= | |
| XM_011531863.1:c.990C>T | XP_011530165.1:p.Ser330= | |
| XM_011531864.1:c.990C>T | XP_011530166.1:p.Ser330= | |
| XM_011531865.1:c.990C>T | XP_011530167.1:p.Ser330= | |
| XM_011531866.1:c.990C>T | XP_011530168.1:p.Ser330= | |
| XM_011531867.1:c.636C>T | XP_011530169.1:p.Ser212= | |
| XR_427543.2:n.1149C>T | ||
| XR_938721.1:n.1160C>T | ||
| NM_001358921.1:c.840C>T | NP_001345850.1:p.Ser280= | |
| NM_015697.8:c.990C>T | NP_056512.5:p.Ser330= | |
| XM_011531855.3:c.840C>T | XP_011530157.2:p.Ser280= | |
| XM_011531857.3:c.840C>T | XP_011530159.2:p.Ser280= | |
| XM_011531859.3:c.840C>T | XP_011530161.2:p.Ser280= | |
| XM_011531860.3:c.840C>T | XP_011530162.2:p.Ser280= | |
| XM_011531862.3:c.840C>T | XP_011530164.2:p.Ser280= | |
| XM_011531863.3:c.840C>T | XP_011530165.2:p.Ser280= | |
| XM_011531866.3:c.840C>T | XP_011530168.2:p.Ser280= | |
| XM_011531867.3:c.636C>T | XP_011530169.1:p.Ser212= | |
| XM_017008031.2:c.636C>T | XP_016863520.1:p.Ser212= | |
| XM_017008032.2:c.249C>T | XP_016863521.1:p.Ser83= | |
| XR_001741203.2:n.871C>T | ||
| XR_001741204.2:n.866C>T | ||
| XR_427543.4:n.871C>T | ||
| XR_938721.3:n.866C>T | ||
| NM_001358921.2:c.840C>T MANE Select | NP_001345850.1:p.Ser280= | |
| NM_015697.9:c.990C>T | NP_056512.5:p.Ser330= |