Linked Data
ClinVar Variation Id:
348576
ClinVar RCV Id:
RCV000320509
dbSNP Id:
rs567769591
ExAC:
4:2829025 C / T
gnomAD v2:
4-2829025-C-T
gnomAD v3:
4-2827298-C-T
gnomAD v4:
4-2827298-C-T
COSMIC:
COSM1054795
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2827298C>T , CM000666.2:g.2827298C>T | GRCh38 |
| NC_000004.11:g.2829025C>T , CM000666.1:g.2829025C>T | GRCh37 |
| NC_000004.10:g.2798823C>T | NCBI36 |
| NG_011609.1:g.39276C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435136.8:c.581C>T | ENSP00000403231.3:p.Pro194Leu | |
| ENST00000503393.8:c.497C>T MANE Select | ENSP00000422168.3:p.Pro166Leu | |
| ENST00000511747.6:c.668C>T | ENSP00000424846.2:p.Pro223Leu | |
| ENST00000356331.9:c.497C>T | ENSP00000348685.5:p.Pro166Leu | |
| ENST00000435136.6:c.497C>T | ENSP00000403231.2:p.Pro166Leu | |
| ENST00000442312.6:c.581C>T | ENSP00000388152.2:p.Pro194Leu | |
| ENST00000452765.6:c.497C>T | ENSP00000409746.2:p.Pro166Leu | |
| ENST00000503393.6:c.668C>T | ENSP00000422168.2:p.Pro223Leu | |
| ENST00000504294.5:c.497C>T | ENSP00000423275.1:p.Pro166Leu | |
| ENST00000504450.1:n.449C>T | ||
| ENST00000505941.5:n.515C>T | ||
| ENST00000508385.5:c.497C>T | ENSP00000424917.1:p.Pro166Leu | |
| ENST00000510204.5:n.974C>T | ||
| ENST00000511663.5:n.947C>T | ||
| ENST00000511747.5:c.497C>T | ENSP00000424846.1:p.Pro166Leu | |
| ENST00000512014.5:c.497C>T | ENSP00000424105.1:p.Pro166Leu | |
| ENST00000515183.5:n.235C>T | ||
| ENST00000515737.5:c.*382C>T | ENSP00000422605.1:n.*382C>T | |
| ENST00000515802.5:n.603C>T | ||
| NM_001122681.1:c.497C>T | NP_001116153.1:p.Pro166Leu | |
| NM_001145855.1:c.581C>T | NP_001139327.1:p.Pro194Leu | |
| NM_001145856.1:c.668C>T | NP_001139328.1:p.Pro223Leu | |
| NM_003023.4:c.497C>T | NP_003014.3:p.Pro166Leu | |
| XM_005247998.3:c.506C>T | XP_005248055.1:p.Pro169Leu | |
| XM_005247999.3:c.497C>T | XP_005248056.1:p.Pro166Leu | |
| XM_011513547.1:c.668C>T | XP_011511849.1:p.Pro223Leu | |
| XM_011513548.1:c.497C>T | XP_011511850.1:p.Pro166Leu | |
| XM_011513549.1:c.497C>T | XP_011511851.1:p.Pro166Leu | |
| XM_011513550.1:c.497C>T | XP_011511852.1:p.Pro166Leu | |
| XM_011513551.1:c.497C>T | XP_011511853.1:p.Pro166Leu | |
| XM_011513552.1:c.326C>T | XP_011511854.1:p.Pro109Leu | |
| XM_011513553.1:c.134C>T | XP_011511855.1:p.Pro45Leu | |
| XM_011513554.1:c.497C>T | XP_011511856.1:p.Pro166Leu | |
| XM_011513555.1:c.497C>T | XP_011511857.1:p.Pro166Leu | |
| XM_011513556.1:c.497C>T | XP_011511858.1:p.Pro166Leu | |
| XR_924990.1:n.501C>T | ||
| NM_001122681.2:c.497C>T MANE Select | NP_001116153.1:p.Pro166Leu | |
| NM_001145855.2:c.581C>T | NP_001139327.1:p.Pro194Leu | |
| NM_001145856.2:c.668C>T | NP_001139328.1:p.Pro223Leu |