Linked Data
ClinVar Variation Id:
2193352
ClinVar RCV Id:
RCV002623939
dbSNP Id:
rs1214755830
gnomAD v2:
17-7592339-T-C
gnomAD v3:
17-7689021-T-C
gnomAD v4:
17-7689021-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7689021T>C , CM000679.2:g.7689021T>C | GRCh38 |
| NC_000017.10:g.7592339T>C , CM000679.1:g.7592339T>C | GRCh37 |
| NC_000017.9:g.7533064T>C | NCBI36 |
| NG_017013.2:g.3530A>G , LRG_321:g.3530A>G | |
| NG_028245.1:g.7951T>C , LRG_375:g.7951T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698742.1:c.373T>C | ENSP00000513904.1:p.Ser125Pro | |
| ENST00000698743.1:c.373T>C | ENSP00000513905.1:p.Ser125Pro | |
| ENST00000698744.1:c.373T>C | ENSP00000513906.1:p.Ser125Pro | |
| ENST00000698745.1:c.373T>C | ENSP00000513907.1:p.Ser125Pro | |
| ENST00000698746.1:c.373T>C | ENSP00000513908.1:p.Ser125Pro | |
| ENST00000396463.7:c.373T>C MANE Select | ENSP00000379727.3:p.Ser125Pro | |
| ENST00000316024.9:c.373T>C | ENSP00000324203.5:p.Ser125Pro | |
| ENST00000396463.6:c.373T>C | ENSP00000379727.2:p.Ser125Pro | |
| ENST00000431639.6:c.373T>C | ENSP00000397219.2:p.Ser125Pro | |
| ENST00000457584.6:c.373T>C | ENSP00000411061.2:p.Ser125Pro | |
| ENST00000467699.5:n.459T>C | ||
| ENST00000498311.5:c.373T>C | ENSP00000432991.1:p.Ser125Pro | |
| ENST00000534050.5:c.373T>C | ENSP00000434999.1:p.Ser125Pro | |
| NM_001143990.1:c.373T>C | NP_001137462.1:p.Ser125Pro | |
| NM_001143991.1:c.373T>C | NP_001137463.1:p.Ser125Pro | |
| NM_001143992.1:c.373T>C | NP_001137464.1:p.Ser125Pro | |
| NM_018081.2:c.373T>C , LRG_375t1:c.373T>C | NP_060551.2:p.Ser125Pro | |
| XM_011523952.2:c.-260T>C | XP_011522254.1:n.-260T>C | |
| XM_024450824.1:c.-1703T>C | XP_024306592.1:n.-1703T>C | |
| XM_024450825.1:c.373T>C | XP_024306593.1:p.Ser125Pro | |
| XR_001752551.2:n.618T>C | ||
| NM_001143991.2:c.373T>C | NP_001137463.1:p.Ser125Pro | |
| NM_001143992.2:c.373T>C MANE Select | NP_001137464.1:p.Ser125Pro | |
| NM_001143990.2:c.373T>C | NP_001137462.1:p.Ser125Pro |