Linked Data
ClinVar Variation Id:
2688757
dbSNP Id:
rs1057519883
gnomAD v2:
9-21971119-C-G
gnomAD v3:
9-21971120-C-G
gnomAD v4:
9-21971120-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21971120C>G , CM000671.2:g.21971120C>G | GRCh38 |
| NC_000009.11:g.21971119C>G , CM000671.1:g.21971119C>G | GRCh37 |
| NC_000009.10:g.21961119C>G | NCBI36 |
| NG_007485.1:g.28372G>C , LRG_11:g.28372G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304494.10:c.239G>C MANE Select | ENSP00000307101.5:p.Arg80Pro | |
| ENST00000404796.3:c.348-58313C>G | ENSP00000385916.2:n.348-58313C>G | |
| ENST00000579755.2:c.282G>C MANE Plus Clinical | ENSP00000462950.1:p.Pro94= | |
| ENST00000304494.9:c.239G>C | ENSP00000307101.5:p.Arg80Pro | |
| ENST00000361570.4:c.282G>C | ENSP00000355153.4:p.Pro94= | |
| ENST00000380150.2:n.213G>C | ||
| ENST00000380151.3:c.513G>C | ENSP00000369496.3:n.513G>C | |
| ENST00000404796.2:c.348-58313C>G | ENSP00000385916.2:n.348-58313C>G | |
| ENST00000479692.2:c.86G>C | ENSP00000466887.1:p.Arg29Pro | |
| ENST00000494262.5:c.86G>C | ENSP00000464952.1:p.Arg29Pro | |
| ENST00000497750.1:c.86G>C | ENSP00000468510.1:p.Arg29Pro | |
| ENST00000498124.1:c.239G>C | ENSP00000418915.1:p.Arg80Pro | |
| ENST00000498628.6:c.86G>C | ENSP00000467857.1:p.Arg29Pro | |
| ENST00000530628.2:c.282G>C | ENSP00000432664.2:p.Pro94= | |
| ENST00000578845.2:c.86G>C | ENSP00000467390.1:p.Arg29Pro | |
| ENST00000579122.1:c.239G>C | ENSP00000464202.1:p.Arg80Pro | |
| ENST00000579755.1:c.282G>C | ENSP00000462950.1:p.Pro94= | |
| NM_000077.4:c.239G>C , LRG_11t1:c.239G>C | NP_000068.1:p.Arg80Pro | |
| NM_001195132.1:c.239G>C | NP_001182061.1:p.Arg80Pro | |
| NM_058195.3:c.282G>C , LRG_11t2:c.282G>C | NP_478102.2:p.Pro94= | |
| NM_058197.4:c.513G>C | NP_478104.2:n.513G>C | |
| XM_005251343.1:c.86G>C | XP_005251400.1:p.Arg29Pro | |
| XM_011517675.1:c.239G>C | XP_011515977.1:p.Arg80Pro | |
| XM_011517676.1:c.239G>C | XP_011515978.1:p.Arg80Pro | |
| XM_011517679.1:c.86G>C | XP_011515981.1:p.Arg29Pro | |
| XR_929159.1:n.640G>C | ||
| XR_929161.1:n.429G>C | ||
| XR_929162.1:n.429G>C | ||
| XR_929163.1:n.378G>C | ||
| XR_929164.1:n.161G>C | ||
| NM_001363763.1:c.86G>C | NP_001350692.1:p.Arg29Pro | |
| XM_011517675.2:c.239G>C | XP_011515977.1:p.Arg80Pro | |
| XM_011517676.2:c.239G>C | XP_011515978.1:p.Arg80Pro | |
| XR_929159.2:n.569G>C | ||
| NM_001363763.2:c.86G>C | NP_001350692.1:p.Arg29Pro | |
| NM_000077.5:c.239G>C MANE Select | NP_000068.1:p.Arg80Pro | |
| NM_001195132.2:c.239G>C | NP_001182061.1:p.Arg80Pro | |
| NM_058195.4:c.282G>C MANE Plus Clinical | NP_478102.2:p.Pro94= | |
| NM_058197.5:c.*162G>C | NP_478104.2:n.*162G>C |