Linked Data
ClinVar Variation Id:
423980
dbSNP Id:
rs202227966
ExAC:
2:73826564 T / C
gnomAD v2:
2-73826564-T-C
gnomAD v3:
2-73599437-T-C
gnomAD v4:
2-73599437-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73599437T>C , CM000664.2:g.73599437T>C | GRCh38 |
| NC_000002.11:g.73826564T>C , CM000664.1:g.73826564T>C | GRCh37 |
| NC_000002.10:g.73680072T>C | NCBI36 |
| NG_011690.1:g.218685T>C , LRG_741:g.218685T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11203T>C | ENSP00000507671.1:p.Ser3735Pro | |
| ENST00000682801.1:c.11167-2748T>C | ENSP00000507862.1:n.11167-2748T>C | |
| ENST00000682859.1:c.11203T>C | ENSP00000508222.1:p.Ser3735Pro | |
| ENST00000683791.1:c.4289T>C | ||
| ENST00000684460.1:c.8484T>C | ||
| ENST00000684548.1:c.11203T>C | ENSP00000507421.1:p.Ser3735Pro | |
| ENST00000684590.1:c.5650T>C | ENSP00000507376.1:p.Ser1884Pro | |
| ENST00000684656.1:c.8668T>C | ||
| ENST00000613296.6:c.11584T>C MANE Select | ENSP00000482968.1:p.Ser3862Pro | |
| ENST00000651057.1:c.1738T>C | ENSP00000498504.1:p.Ser580Pro | |
| ENST00000651434.1:c.2940T>C | ||
| ENST00000651750.1:c.972T>C | ||
| ENST00000652487.1:c.2769-14T>C | ||
| ENST00000484298.5:c.11458T>C | ENSP00000478155.1:p.Ser3820Pro | |
| ENST00000613296.4:c.11584T>C | ENSP00000482968.1:p.Ser3862Pro | |
| ENST00000620466.4:n.5387T>C | ||
| NM_015120.4:c.11587T>C , LRG_741t1:c.11587T>C | NP_055935.4:p.Ser3863Pro | |
| NM_001378454.1:c.11584T>C MANE Select | NP_001365383.1:p.Ser3862Pro |