Linked Data
ClinVar Variation Id:
235410
dbSNP Id:
rs771121666
ExAC:
22:40761034 T / C
gnomAD v2:
22-40761034-T-C
gnomAD v3:
22-40365030-T-C
gnomAD v4:
22-40365030-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40365030T>C , CM000684.2:g.40365030T>C | GRCh38 |
| NC_000022.10:g.40761034T>C , CM000684.1:g.40761034T>C | GRCh37 |
| NC_000022.9:g.39090980T>C | NCBI36 |
| NG_007993.1:g.23531T>C | |
| NG_007993.2:g.23531T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480775.3:c.*736T>C | ENSP00000485462.2:n.*736T>C | |
| ENST00000623287.4:c.*767T>C | ENSP00000485437.1:n.*767T>C | |
| ENST00000623632.4:c.1033T>C | ENSP00000485288.2:p.Ser345Pro | |
| ENST00000625194.4:c.1384T>C | ENSP00000485289.2:p.Ser462Pro | |
| ENST00000636433.1:n.1364T>C | ||
| ENST00000636714.1:c.1342T>C | ENSP00000490946.1:p.Ser448Pro | |
| ENST00000637666.2:c.1191+665T>C | ENSP00000489696.2:n.1191+665T>C | |
| ENST00000637669.1:c.1342T>C | ENSP00000489728.1:p.Ser448Pro | |
| ENST00000639722.1:c.*1038T>C | ENSP00000492828.1:n.*1038T>C | |
| ENST00000674592.1:n.2856T>C | ||
| ENST00000675622.1:n.4409T>C | ||
| ENST00000679609.1:c.*952T>C | ENSP00000506592.1:n.*952T>C | |
| ENST00000679656.1:n.2027T>C | ||
| ENST00000679723.1:c.1297T>C | ENSP00000505155.1:p.Ser433Pro | |
| ENST00000679845.1:n.1650T>C | ||
| ENST00000679904.1:n.1738T>C | ||
| ENST00000680378.1:c.1429T>C | ENSP00000505556.1:p.Ser477Pro | |
| ENST00000680444.1:c.*705T>C | ENSP00000505298.1:n.*705T>C | |
| ENST00000680978.1:c.1342T>C | ENSP00000505244.1:p.Ser448Pro | |
| ENST00000681003.1:n.805T>C | ||
| ENST00000681159.1:n.2746T>C | ||
| ENST00000216194.11:c.1384T>C | ENSP00000216194.8:p.Ser462Pro | |
| ENST00000342312.9:c.1191+665T>C | ENSP00000341429.6:n.1191+665T>C | |
| ENST00000423176.6:c.69T>C | ||
| ENST00000623063.3:c.1342T>C MANE Select | ENSP00000485525.1:p.Ser448Pro | |
| ENST00000623387.1:n.473T>C | ||
| ENST00000623869.3:c.73T>C | ENSP00000485211.1:p.Ser25Pro | |
| ENST00000624027.1:c.69T>C | ||
| ENST00000625194.3:c.971T>C | ||
| NM_000026.2:c.1342T>C | NP_000017.1:p.Ser448Pro | |
| NM_001123378.1:c.1191+665T>C | NP_001116850.1:n.1191+665T>C | |
| XM_011529976.1:c.1342T>C | XP_011528278.1:p.Ser448Pro | |
| XM_011529977.1:c.1342T>C | XP_011528279.1:p.Ser448Pro | |
| XM_011529978.1:c.1191+665T>C | XP_011528280.1:n.1191+665T>C | |
| XM_011529979.1:c.1342T>C | XP_011528281.1:p.Ser448Pro | |
| XM_011529980.1:c.1191+665T>C | XP_011528282.1:n.1191+665T>C | |
| XM_011529981.1:c.877T>C | XP_011528283.1:p.Ser293Pro | |
| XM_011529982.1:c.511T>C | XP_011528284.1:p.Ser171Pro | |
| XR_937824.1:n.1432T>C | ||
| XR_937825.1:n.1281+665T>C | ||
| NM_000026.3:c.1342T>C | NP_000017.1:p.Ser448Pro | |
| NM_001123378.2:c.1191+665T>C | NP_001116850.1:n.1191+665T>C | |
| NM_001317923.1:c.1150T>C | NP_001304852.1:p.Ser384Pro | |
| NM_001363840.1:c.1342T>C | NP_001350769.1:p.Ser448Pro | |
| NR_134256.1:n.1432T>C | ||
| XM_011529977.3:c.1342T>C | XP_011528279.1:p.Ser448Pro | |
| XM_011529980.3:c.1191+665T>C | XP_011528282.1:n.1191+665T>C | |
| XM_017028636.1:c.1297T>C | XP_016884125.1:p.Ser433Pro | |
| XM_017028637.1:c.1297T>C | XP_016884126.1:p.Ser433Pro | |
| XM_017028638.1:c.877T>C | XP_016884127.1:p.Ser293Pro | |
| XM_017028639.2:c.877T>C | XP_016884128.1:p.Ser293Pro | |
| XM_017028640.1:c.511T>C | XP_016884129.1:p.Ser171Pro | |
| XM_024452166.1:c.1146+665T>C | XP_024307934.1:n.1146+665T>C | |
| XR_001755176.2:n.1584T>C | ||
| XR_002958670.1:n.1369T>C | ||
| XR_937825.3:n.1279+665T>C | ||
| NM_000026.4:c.1342T>C MANE Select | NP_000017.1:p.Ser448Pro | |
| NM_001363840.2:c.1342T>C | NP_001350769.1:p.Ser448Pro | |
| NM_001123378.3:c.1191+665T>C | NP_001116850.1:n.1191+665T>C | |
| NM_001317923.2:c.1150T>C | NP_001304852.1:p.Ser384Pro | |
| NM_001363840.3:c.1342T>C | NP_001350769.1:p.Ser448Pro | |
| NR_134256.2:n.1432T>C |