Linked Data
ClinVar Variation Id:
157599
dbSNP Id:
rs141686175
ExAC:
3:38913706 A / G
gnomAD v2:
3-38913706-A-G
gnomAD v3:
3-38872215-A-G
gnomAD v4:
3-38872215-A-G
PubMed:
PMID:24776970
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38872215A>G , CM000665.2:g.38872215A>G | GRCh38 |
| NC_000003.11:g.38913706A>G , CM000665.1:g.38913706A>G | GRCh37 |
| NC_000003.10:g.38888710A>G | NCBI36 |
| NG_033859.1:g.83347T>C | |
| NG_033859.2:g.184772T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302328.9:c.3473T>C MANE Select | ENSP00000307599.3:p.Leu1158Pro | |
| ENST00000668754.1:c.3473T>C | ENSP00000499569.1:p.Leu1158Pro | |
| ENST00000675223.1:c.3473T>C | ENSP00000502481.1:p.Leu1158Pro | |
| ENST00000675672.1:c.3527T>C | ENSP00000502446.1:n.3527T>C | |
| ENST00000675892.1:c.3293T>C | ENSP00000502318.1:p.Leu1098Pro | |
| ENST00000676045.1:c.3517T>C | ENSP00000501685.1:n.3517T>C | |
| ENST00000676176.1:c.3092T>C | ENSP00000501891.1:p.Leu1031Pro | |
| ENST00000302328.7:c.3473T>C | ENSP00000307599.3:p.Leu1158Pro | |
| ENST00000444237.2:c.3473T>C | ENSP00000408028.2:p.Leu1158Pro | |
| ENST00000456224.7:c.3359T>C | ENSP00000416757.3:p.Leu1120Pro | |
| NM_001287223.1:c.3473T>C | NP_001274152.1:p.Leu1158Pro | |
| NM_014139.2:c.3473T>C | NP_054858.2:p.Leu1158Pro | |
| XM_011533320.1:c.3473T>C | XP_011531622.1:p.Leu1158Pro | |
| XM_011533321.1:c.2810T>C | XP_011531623.1:p.Leu937Pro | |
| XM_011533322.1:c.2021T>C | XP_011531624.1:p.Leu674Pro | |
| NM_001349253.1:c.3473T>C | NP_001336182.1:p.Leu1158Pro | |
| XM_011533321.2:c.2810T>C | XP_011531623.1:p.Leu937Pro | |
| XM_017005647.1:c.3848T>C | XP_016861136.1:p.Leu1283Pro | |
| XM_017005648.1:c.3275T>C | XP_016861137.1:p.Leu1092Pro | |
| XM_017005650.1:c.3473T>C | XP_016861139.1:p.Leu1158Pro | |
| XM_017005651.1:c.3200T>C | XP_016861140.1:p.Leu1067Pro | |
| XM_017005652.1:c.3473T>C | XP_016861141.1:p.Leu1158Pro | |
| XM_017005653.1:c.1877T>C | XP_016861142.1:p.Leu626Pro | |
| NM_001349253.2:c.3473T>C MANE Select | NP_001336182.1:p.Leu1158Pro | |
| NM_014139.3:c.3473T>C | NP_054858.2:p.Leu1158Pro |