Linked Data
ClinVar Variation Id:
381551
dbSNP Id:
rs1057521071
gnomAD v2:
22-40762471-C-G
gnomAD v4:
22-40366467-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40366467C>G , CM000684.2:g.40366467C>G | GRCh38 |
| NC_000022.10:g.40762471C>G , CM000684.1:g.40762471C>G | GRCh37 |
| NC_000022.9:g.39092417C>G | NCBI36 |
| NG_007993.1:g.24968C>G | |
| NG_007993.2:g.24968C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480775.3:c.*794C>G | ENSP00000485462.2:n.*794C>G | |
| ENST00000623287.4:c.*825C>G | ENSP00000485437.1:n.*825C>G | |
| ENST00000623632.4:c.1091C>G | ENSP00000485288.2:p.Pro364Arg | |
| ENST00000625194.4:c.1442C>G | ENSP00000485289.2:p.Pro481Arg | |
| ENST00000636433.1:n.1422C>G | ||
| ENST00000636714.1:c.1400C>G | ENSP00000490946.1:p.Pro467Arg | |
| ENST00000637666.2:c.1223C>G | ENSP00000489696.2:p.Pro408Arg | |
| ENST00000637669.1:c.1400C>G | ENSP00000489728.1:p.Pro467Arg | |
| ENST00000639722.1:c.*1096C>G | ENSP00000492828.1:n.*1096C>G | |
| ENST00000674592.1:n.2914C>G | ||
| ENST00000675622.1:n.4467C>G | ||
| ENST00000679609.1:c.*1010C>G | ENSP00000506592.1:n.*1010C>G | |
| ENST00000679656.1:n.2085C>G | ||
| ENST00000679723.1:c.1355C>G | ENSP00000505155.1:p.Pro452Arg | |
| ENST00000679845.1:n.1708C>G | ||
| ENST00000679904.1:n.1796C>G | ||
| ENST00000680378.1:c.1487C>G | ENSP00000505556.1:p.Pro496Arg | |
| ENST00000680444.1:c.*763C>G | ENSP00000505298.1:n.*763C>G | |
| ENST00000680978.1:c.1400C>G | ENSP00000505244.1:p.Pro467Arg | |
| ENST00000681003.1:n.863C>G | ||
| ENST00000681159.1:n.2804C>G | ||
| ENST00000216194.11:c.1442C>G | ENSP00000216194.8:p.Pro481Arg | |
| ENST00000342312.9:c.1223C>G | ENSP00000341429.6:p.Pro408Arg | |
| ENST00000423176.6:c.127C>G | ||
| ENST00000498234.2:c.58C>G | ||
| ENST00000623063.3:c.1400C>G MANE Select | ENSP00000485525.1:p.Pro467Arg | |
| ENST00000623387.1:n.531C>G | ||
| ENST00000623869.3:c.131C>G | ENSP00000485211.1:p.Pro44Arg | |
| ENST00000624027.1:c.96-1002C>G | ||
| ENST00000625194.3:c.1029C>G | ||
| NM_000026.2:c.1400C>G | NP_000017.1:p.Pro467Arg | |
| NM_001123378.1:c.1223C>G | NP_001116850.1:p.Pro408Arg | |
| XM_011529976.1:c.1400C>G | XP_011528278.1:p.Pro467Arg | |
| XM_011529977.1:c.1400C>G | XP_011528279.1:p.Pro467Arg | |
| XM_011529978.1:c.1223C>G | XP_011528280.1:p.Pro408Arg | |
| XM_011529979.1:c.1400C>G | XP_011528281.1:p.Pro467Arg | |
| XM_011529980.1:c.1223C>G | XP_011528282.1:p.Pro408Arg | |
| XM_011529981.1:c.935C>G | XP_011528283.1:p.Pro312Arg | |
| XM_011529982.1:c.569C>G | XP_011528284.1:p.Pro190Arg | |
| XR_937824.1:n.1490C>G | ||
| XR_937825.1:n.1313C>G | ||
| NM_000026.3:c.1400C>G | NP_000017.1:p.Pro467Arg | |
| NM_001123378.2:c.1223C>G | NP_001116850.1:p.Pro408Arg | |
| NM_001317923.1:c.1208C>G | NP_001304852.1:p.Pro403Arg | |
| NM_001363840.1:c.1400C>G | NP_001350769.1:p.Pro467Arg | |
| NR_134256.1:n.1490C>G | ||
| XM_011529977.3:c.1400C>G | XP_011528279.1:p.Pro467Arg | |
| XM_011529980.3:c.1223C>G | XP_011528282.1:p.Pro408Arg | |
| XM_017028636.1:c.1355C>G | XP_016884125.1:p.Pro452Arg | |
| XM_017028637.1:c.1355C>G | XP_016884126.1:p.Pro452Arg | |
| XM_017028638.1:c.935C>G | XP_016884127.1:p.Pro312Arg | |
| XM_017028639.2:c.935C>G | XP_016884128.1:p.Pro312Arg | |
| XM_017028640.1:c.569C>G | XP_016884129.1:p.Pro190Arg | |
| XM_024452166.1:c.1178C>G | XP_024307934.1:p.Pro393Arg | |
| XR_001755176.2:n.1642C>G | ||
| XR_002958670.1:n.1427C>G | ||
| XR_937825.3:n.1311C>G | ||
| NM_000026.4:c.1400C>G MANE Select | NP_000017.1:p.Pro467Arg | |
| NM_001363840.2:c.1400C>G | NP_001350769.1:p.Pro467Arg | |
| NM_001123378.3:c.1223C>G | NP_001116850.1:p.Pro408Arg | |
| NM_001317923.2:c.1208C>G | NP_001304852.1:p.Pro403Arg | |
| NM_001363840.3:c.1400C>G | NP_001350769.1:p.Pro467Arg | |
| NR_134256.2:n.1490C>G |