Linked Data
ClinVar Variation Id:
1409672
ClinVar RCV Id:
RCV001939891
dbSNP Id:
rs758269687
ExAC:
3:53157824 A / G
gnomAD v2:
3-53157824-A-G
gnomAD v4:
3-53123808-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53123808A>G , CM000665.2:g.53123808A>G | GRCh38 |
| NC_000003.11:g.53157824A>G , CM000665.1:g.53157824A>G | GRCh37 |
| NC_000003.10:g.53132864A>G | NCBI36 |
| NG_009203.1:g.11647T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296292.8:c.182T>C MANE Select | ENSP00000296292.3:p.Leu61Pro | |
| ENST00000296292.7:c.182T>C | ENSP00000296292.3:p.Leu61Pro | |
| ENST00000394738.7:c.150-1245T>C | ENSP00000378223.3:n.150-1245T>C | |
| ENST00000467048.1:c.182T>C | ENSP00000420325.1:p.Leu61Pro | |
| NM_052859.3:c.182T>C | NP_443091.1:p.Leu61Pro | |
| XM_005265537.3:c.182T>C | XP_005265594.1:p.Leu61Pro | |
| XM_006713384.2:c.182T>C | XP_006713447.1:p.Leu61Pro | |
| XM_011534214.1:c.182T>C | XP_011532516.1:p.Leu61Pro | |
| XM_011534215.1:c.182T>C | XP_011532517.1:p.Leu61Pro | |
| XR_940507.1:n.241T>C | ||
| XM_005265537.4:c.182T>C | XP_005265594.1:p.Leu61Pro | |
| XM_006713384.3:c.182T>C | XP_006713447.1:p.Leu61Pro | |
| XM_011534214.2:c.182T>C | XP_011532516.1:p.Leu61Pro | |
| XM_011534215.3:c.182T>C | XP_011532517.1:p.Leu61Pro | |
| XM_011534216.3:c.-659T>C | XP_011532518.1:n.-659T>C | |
| XM_017007460.1:c.182T>C | XP_016862949.1:p.Leu61Pro | |
| XM_017007461.2:c.-659T>C | XP_016862950.1:n.-659T>C | |
| XR_001740360.2:n.248T>C | ||
| NM_052859.4:c.182T>C MANE Select | NP_443091.1:p.Leu61Pro |