Linked Data
ClinVar Variation Id:
181739
dbSNP Id:
rs730881197
ExAC:
2:145156389 A / G
gnomAD v2:
2-145156389-A-G
gnomAD v3:
2-144398822-A-G
gnomAD v4:
2-144398822-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144398822A>G , CM000664.2:g.144398822A>G | GRCh38 |
| NC_000002.11:g.145156389A>G , CM000664.1:g.145156389A>G | GRCh37 |
| NC_000002.10:g.144872859A>G | NCBI36 |
| NG_016431.1:g.126570T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*2214T>C | ENSP00000508434.1:n.*2214T>C | |
| ENST00000440875.6:c.1588T>C | ENSP00000475553.3:p.Ser530Pro | |
| ENST00000627532.3:c.2365T>C MANE Select | ENSP00000487174.1:p.Ser789Pro | |
| ENST00000636026.2:c.2365T>C | ENSP00000490776.1:p.Ser789Pro | |
| ENST00000636179.1:n.2334T>C | ||
| ENST00000636413.1:c.2029T>C | ENSP00000490508.1:p.Ser677Pro | |
| ENST00000636471.1:c.2440T>C | ENSP00000490317.1:p.Ser814Pro | |
| ENST00000636732.2:c.*2082T>C | ENSP00000490175.1:n.*2082T>C | |
| ENST00000636820.1:n.2465T>C | ||
| ENST00000637045.1:c.2029T>C | ENSP00000490141.1:p.Ser677Pro | |
| ENST00000637304.1:c.2029T>C | ENSP00000490872.1:p.Ser677Pro | |
| ENST00000638007.1:c.2029T>C | ENSP00000490723.1:p.Ser677Pro | |
| ENST00000638087.1:c.2029T>C | ENSP00000490673.1:p.Ser677Pro | |
| ENST00000638128.1:c.1588T>C | ENSP00000490934.1:p.Ser530Pro | |
| ENST00000675069.1:c.-105T>C | ENSP00000502467.1:n.-105T>C | |
| ENST00000675145.1:n.2913T>C | ||
| ENST00000303660.8:c.2362T>C | ENSP00000302501.4:p.Ser788Pro | |
| ENST00000409487.7:c.2365T>C | ENSP00000386854.2:p.Ser789Pro | |
| ENST00000419938.5:c.655+2377T>C | ENSP00000394777.2:n.655+2377T>C | |
| ENST00000440875.5:c.1167+715T>C | ENSP00000475553.2:n.1167+715T>C | |
| ENST00000539609.7:c.2293T>C | ENSP00000443792.2:p.Ser765Pro | |
| ENST00000558170.6:c.2365T>C | ENSP00000454157.1:p.Ser789Pro | |
| ENST00000627532.2:c.2365T>C | ENSP00000487174.1:p.Ser789Pro | |
| NM_001171653.1:c.2293T>C | NP_001165124.1:p.Ser765Pro | |
| NM_014795.3:c.2365T>C | NP_055610.1:p.Ser789Pro | |
| XM_006712881.2:c.2365T>C | XP_006712944.1:p.Ser789Pro | |
| XM_006712882.2:c.2365T>C | XP_006712945.1:p.Ser789Pro | |
| XM_011512231.1:c.2356T>C | XP_011510533.1:p.Ser786Pro | |
| XM_011512232.1:c.2344T>C | XP_011510534.1:p.Ser782Pro | |
| NM_014795.4:c.2365T>C MANE Select | NP_055610.1:p.Ser789Pro | |
| NM_001171653.2:c.2293T>C | NP_001165124.1:p.Ser765Pro |