Linked Data
ClinVar Variation Id:
838228
ClinVar RCV Id:
RCV001039736
dbSNP Id:
rs571597579
ExAC:
22:40760927 C / T
gnomAD v2:
22-40760927-C-T
gnomAD v3:
22-40364923-C-T
gnomAD v4:
22-40364923-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40364923C>T , CM000684.2:g.40364923C>T | GRCh38 |
| NC_000022.10:g.40760927C>T , CM000684.1:g.40760927C>T | GRCh37 |
| NC_000022.9:g.39090873C>T | NCBI36 |
| NG_007993.1:g.23424C>T | |
| NG_007993.2:g.23424C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480775.3:c.*629C>T | ENSP00000485462.2:n.*629C>T | |
| ENST00000623287.4:c.*660C>T | ENSP00000485437.1:n.*660C>T | |
| ENST00000623632.4:c.926C>T | ENSP00000485288.2:p.Ser309Phe | |
| ENST00000625194.4:c.1277C>T | ENSP00000485289.2:p.Ser426Phe | |
| ENST00000636433.1:n.1257C>T | ||
| ENST00000636714.1:c.1235C>T | ENSP00000490946.1:p.Ser412Phe | |
| ENST00000637666.2:c.1191+558C>T | ENSP00000489696.2:n.1191+558C>T | |
| ENST00000637669.1:c.1235C>T | ENSP00000489728.1:p.Ser412Phe | |
| ENST00000639722.1:c.*931C>T | ENSP00000492828.1:n.*931C>T | |
| ENST00000674592.1:n.2749C>T | ||
| ENST00000675622.1:n.4302C>T | ||
| ENST00000679609.1:c.*845C>T | ENSP00000506592.1:n.*845C>T | |
| ENST00000679656.1:n.1920C>T | ||
| ENST00000679723.1:c.1190C>T | ENSP00000505155.1:p.Ser397Phe | |
| ENST00000679845.1:n.1543C>T | ||
| ENST00000679904.1:n.1631C>T | ||
| ENST00000680378.1:c.1322C>T | ENSP00000505556.1:p.Ser441Phe | |
| ENST00000680444.1:c.*598C>T | ENSP00000505298.1:n.*598C>T | |
| ENST00000680978.1:c.1235C>T | ENSP00000505244.1:p.Ser412Phe | |
| ENST00000681003.1:n.698C>T | ||
| ENST00000681159.1:n.2639C>T | ||
| ENST00000216194.11:c.1277C>T | ENSP00000216194.8:p.Ser426Phe | |
| ENST00000342312.9:c.1191+558C>T | ENSP00000341429.6:n.1191+558C>T | |
| ENST00000623063.3:c.1235C>T MANE Select | ENSP00000485525.1:p.Ser412Phe | |
| ENST00000623387.1:n.366C>T | ||
| ENST00000625194.3:c.864C>T | ||
| NM_000026.2:c.1235C>T | NP_000017.1:p.Ser412Phe | |
| NM_001123378.1:c.1191+558C>T | NP_001116850.1:n.1191+558C>T | |
| XM_011529976.1:c.1235C>T | XP_011528278.1:p.Ser412Phe | |
| XM_011529977.1:c.1235C>T | XP_011528279.1:p.Ser412Phe | |
| XM_011529978.1:c.1191+558C>T | XP_011528280.1:n.1191+558C>T | |
| XM_011529979.1:c.1235C>T | XP_011528281.1:p.Ser412Phe | |
| XM_011529980.1:c.1191+558C>T | XP_011528282.1:n.1191+558C>T | |
| XM_011529981.1:c.770C>T | XP_011528283.1:p.Ser257Phe | |
| XM_011529982.1:c.404C>T | XP_011528284.1:p.Ser135Phe | |
| XR_937824.1:n.1325C>T | ||
| XR_937825.1:n.1281+558C>T | ||
| NM_000026.3:c.1235C>T | NP_000017.1:p.Ser412Phe | |
| NM_001123378.2:c.1191+558C>T | NP_001116850.1:n.1191+558C>T | |
| NM_001317923.1:c.1043C>T | NP_001304852.1:p.Ser348Phe | |
| NM_001363840.1:c.1235C>T | NP_001350769.1:p.Ser412Phe | |
| NR_134256.1:n.1325C>T | ||
| XM_011529977.3:c.1235C>T | XP_011528279.1:p.Ser412Phe | |
| XM_011529980.3:c.1191+558C>T | XP_011528282.1:n.1191+558C>T | |
| XM_017028636.1:c.1190C>T | XP_016884125.1:p.Ser397Phe | |
| XM_017028637.1:c.1190C>T | XP_016884126.1:p.Ser397Phe | |
| XM_017028638.1:c.770C>T | XP_016884127.1:p.Ser257Phe | |
| XM_017028639.2:c.770C>T | XP_016884128.1:p.Ser257Phe | |
| XM_017028640.1:c.404C>T | XP_016884129.1:p.Ser135Phe | |
| XM_024452166.1:c.1146+558C>T | XP_024307934.1:n.1146+558C>T | |
| XR_001755176.2:n.1477C>T | ||
| XR_002958670.1:n.1262C>T | ||
| XR_937825.3:n.1279+558C>T | ||
| NM_000026.4:c.1235C>T MANE Select | NP_000017.1:p.Ser412Phe | |
| NM_001363840.2:c.1235C>T | NP_001350769.1:p.Ser412Phe | |
| NM_001123378.3:c.1191+558C>T | NP_001116850.1:n.1191+558C>T | |
| NM_001317923.2:c.1043C>T | NP_001304852.1:p.Ser348Phe | |
| NM_001363840.3:c.1235C>T | NP_001350769.1:p.Ser412Phe | |
| NR_134256.2:n.1325C>T |