Linked Data
ClinVar Variation Id:
451783
dbSNP Id:
rs150982987
ExAC:
6:33156158 A / G
gnomAD v2:
6-33156158-A-G
gnomAD v3:
6-33188381-A-G
gnomAD v4:
6-33188381-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33188381A>G , CM000668.2:g.33188381A>G | GRCh38 |
| NC_000006.11:g.33156158A>G , CM000668.1:g.33156158A>G | GRCh37 |
| NC_000006.10:g.33264136A>G | NCBI36 |
| NG_011589.1:g.9088T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682718.1:n.404T>C | ||
| ENST00000341947.7:c.587T>C MANE Select | ENSP00000339915.2:p.Leu196Pro | |
| ENST00000341947.6:c.587T>C | ENSP00000339915.2:p.Leu196Pro | |
| ENST00000361917.5:c.587T>C | ENSP00000355123.1:p.Leu196Pro | |
| ENST00000374708.8:c.587T>C | ENSP00000363840.4:p.Leu196Pro | |
| ENST00000395194.1:c.587T>C | ENSP00000378620.1:p.Leu196Pro | |
| ENST00000457788.5:c.587T>C | ENSP00000405520.1:p.Leu196Pro | |
| NM_001163771.1:c.587T>C | NP_001157243.1:p.Leu196Pro | |
| NM_080679.2:c.587T>C | NP_542410.2:p.Leu196Pro | |
| NM_080680.2:c.587T>C | NP_542411.2:p.Leu196Pro | |
| NM_080681.2:c.587T>C | NP_542412.2:p.Leu196Pro | |
| XM_011514298.1:c.-260T>C | XP_011512600.1:n.-260T>C | |
| XM_017010250.1:c.587T>C | XP_016865739.1:p.Leu196Pro | |
| NM_001163771.2:c.587T>C | NP_001157243.1:p.Leu196Pro | |
| NM_080680.3:c.587T>C MANE Select | NP_542411.2:p.Leu196Pro | |
| NM_080681.3:c.587T>C | NP_542412.2:p.Leu196Pro | |
| NM_080679.3:c.587T>C | NP_542410.2:p.Leu196Pro |