Linked Data
ClinVar Variation Id:
17636
dbSNP Id:
rs1801197
ExAC:
7:93055753 A / G
gnomAD v2:
7-93055753-A-G
gnomAD v3:
7-93426441-A-G
gnomAD v4:
7-93426441-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93426441A>G , CM000669.2:g.93426441A>G | GRCh38 |
| NC_000007.13:g.93055753A>G , CM000669.1:g.93055753A>G | GRCh37 |
| NC_000007.12:g.92893689A>G | NCBI36 |
| NG_013005.1:g.153290T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426151.7:c.1340T>C MANE Select | ENSP00000389295.1:p.Leu447Pro | |
| ENST00000649521.1:c.1388T>C | ENSP00000497687.1:p.Leu463Pro | |
| ENST00000359558.6:c.1442T>C | ENSP00000352561.2:p.Leu481Pro | |
| ENST00000360249.8:c.*850T>C | ENSP00000353385.5:n.*850T>C | |
| ENST00000394441.5:c.1340T>C | ENSP00000377959.1:p.Leu447Pro | |
| ENST00000415529.2:c.1390T>C | ENSP00000413179.1:n.1390T>C | |
| ENST00000421592.5:c.1388T>C | ENSP00000399552.1:p.Leu463Pro | |
| ENST00000423724.5:c.1438T>C | ENSP00000391369.1:n.1438T>C | |
| ENST00000426151.5:c.1340T>C | ENSP00000389295.1:p.Leu447Pro | |
| NM_001164737.1:c.1442T>C | NP_001158209.1:p.Leu481Pro | |
| NM_001164738.1:c.1340T>C | NP_001158210.1:p.Leu447Pro | |
| NM_001742.3:c.1340T>C | NP_001733.1:p.Leu447Pro | |
| NM_001164737.2:c.1388T>C | NP_001158209.2:p.Leu463Pro | |
| NM_001742.4:c.1340T>C MANE Select | NP_001733.1:p.Leu447Pro | |
| NM_001164737.3:c.1388T>C | NP_001158209.2:p.Leu463Pro | |
| NM_001164738.2:c.1340T>C | NP_001158210.1:p.Leu447Pro |