Linked Data
ClinVar Variation Id:
2587277
ClinVar RCV Id:
RCV003360775
dbSNP Id:
rs1427335210
gnomAD v3:
12-40363406-T-C
gnomAD v4:
12-40363406-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40363406T>C , CM000674.2:g.40363406T>C | GRCh38 |
| NC_000012.11:g.40757208T>C , CM000674.1:g.40757208T>C | GRCh37 |
| NC_000012.10:g.39043475T>C | NCBI36 |
| NG_011709.1:g.143396T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.7033T>C MANE Select | ENSP00000298910.7:p.Ser2345Pro | |
| ENST00000636518.1:c.830T>C | ||
| ENST00000679360.1:c.*5942T>C | ENSP00000505368.1:n.*5942T>C | |
| ENST00000679532.1:c.2807T>C | ||
| ENST00000679683.1:c.823T>C | ||
| ENST00000680018.1:c.2478T>C | ENSP00000505347.1:n.2478T>C | |
| ENST00000680422.1:c.4120T>C | ||
| ENST00000680425.1:c.2200T>C | ENSP00000506459.1:n.2200T>C | |
| ENST00000680453.1:c.2490T>C | ||
| ENST00000680790.1:c.6778T>C | ENSP00000505335.1:p.Ser2260Pro | |
| ENST00000681136.1:n.3017T>C | ||
| ENST00000681696.1:c.2716T>C | ENSP00000505871.1:p.Ser906Pro | |
| ENST00000681773.1:n.240T>C | ||
| ENST00000298910.11:c.7033T>C | ENSP00000298910.7:p.Ser2345Pro | |
| ENST00000430804.5:c.4329T>C | ||
| ENST00000479187.5:n.3714T>C | ||
| NM_198578.3:c.7033T>C | NP_940980.3:p.Ser2345Pro | |
| XM_005268629.2:c.7033T>C | XP_005268686.1:p.Ser2345Pro | |
| XM_011537877.1:c.7033T>C | XP_011536179.1:p.Ser2345Pro | |
| XM_011537879.1:c.5830T>C | XP_011536181.1:p.Ser1944Pro | |
| XR_944868.1:n.485-8579A>G | ||
| XM_005268629.4:c.7033T>C | XP_005268686.1:p.Ser2345Pro | |
| XM_011537877.3:c.7033T>C | XP_011536179.1:p.Ser2345Pro | |
| XM_017018787.1:c.3949T>C | XP_016874276.1:p.Ser1317Pro | |
| XM_017018788.2:c.3295T>C | XP_016874277.1:p.Ser1099Pro | |
| XM_024448833.1:c.5830T>C | XP_024304601.1:p.Ser1944Pro | |
| XR_944868.2:n.485-8579A>G | ||
| NM_198578.4:c.7033T>C MANE Select | NP_940980.4:p.Ser2345Pro |