Linked Data
ClinVar Variation Id:
241327
dbSNP Id:
rs142607078
ExAC:
9:35740293 C / G
gnomAD v2:
9-35740293-C-G
gnomAD v3:
9-35740296-C-G
gnomAD v4:
9-35740296-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35740296C>G , CM000671.2:g.35740296C>G | GRCh38 |
| NC_000009.11:g.35740293C>G , CM000671.1:g.35740293C>G | GRCh37 |
| NC_000009.10:g.35730293C>G | NCBI36 |
| NG_033899.1:g.13933G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378094.4:c.1196G>C | ENSP00000367334.4:p.Arg399Pro | |
| ENST00000378103.7:c.1196G>C MANE Select | ENSP00000367343.3:p.Arg399Pro | |
| ENST00000467252.5:n.768G>C | ||
| NM_020944.2:c.1196G>C | NP_065995.1:p.Arg399Pro | |
| XM_005251526.3:c.1214G>C | XP_005251583.1:p.Arg405Pro | |
| XM_006716809.2:c.1214G>C | XP_006716872.1:p.Arg405Pro | |
| XM_011517969.1:c.1214G>C | XP_011516271.1:p.Arg405Pro | |
| XM_011517970.1:c.1196G>C | XP_011516272.1:p.Arg399Pro | |
| XM_011517971.1:c.1214G>C | XP_011516273.1:p.Arg405Pro | |
| XM_011517972.1:c.1214G>C | XP_011516274.1:p.Arg405Pro | |
| XM_011517973.1:c.1196G>C | XP_011516275.1:p.Arg399Pro | |
| XM_011517974.1:c.977G>C | XP_011516276.1:p.Arg326Pro | |
| XM_011517975.1:c.761G>C | XP_011516277.1:p.Arg254Pro | |
| XM_011517976.1:c.743G>C | XP_011516278.1:p.Arg248Pro | |
| XM_011517977.1:c.659G>C | XP_011516279.1:p.Arg220Pro | |
| XM_011517978.1:c.641G>C | XP_011516280.1:p.Arg214Pro | |
| XM_011517979.1:c.641G>C | XP_011516281.1:p.Arg214Pro | |
| NM_001330660.1:c.1196G>C | NP_001317589.1:p.Arg399Pro | |
| XM_005251526.5:c.1214G>C | XP_005251583.1:p.Arg405Pro | |
| XM_006716809.4:c.1214G>C | XP_006716872.1:p.Arg405Pro | |
| XM_017014937.2:c.1196G>C | XP_016870426.1:p.Arg399Pro | |
| XM_017014938.2:c.1214G>C | XP_016870427.1:p.Arg405Pro | |
| XM_017014939.2:c.1196G>C | XP_016870428.1:p.Arg399Pro | |
| XM_017014940.2:c.977G>C | XP_016870429.1:p.Arg326Pro | |
| XM_017014941.2:c.977G>C | XP_016870430.1:p.Arg326Pro | |
| XM_017014942.2:c.761G>C | XP_016870431.1:p.Arg254Pro | |
| XM_017014943.2:c.743G>C | XP_016870432.1:p.Arg248Pro | |
| XM_017014944.1:c.659G>C | XP_016870433.1:p.Arg220Pro | |
| XM_017014945.1:c.641G>C | XP_016870434.1:p.Arg214Pro | |
| XM_017014946.2:c.335G>C | XP_016870435.1:p.Arg112Pro | |
| NM_020944.3:c.1196G>C MANE Select | NP_065995.1:p.Arg399Pro | |
| NM_001330660.2:c.1196G>C | NP_001317589.1:p.Arg399Pro |