Linked Data
ClinVar Variation Id:
381578
ClinVar RCV Id:
RCV000439475
dbSNP Id:
rs1057521084
gnomAD v2:
3-183855467-T-C
gnomAD v4:
3-184137679-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184137679T>C , CM000665.2:g.184137679T>C | GRCh38 |
| NC_000003.11:g.183855467T>C , CM000665.1:g.183855467T>C | GRCh37 |
| NC_000003.10:g.185338161T>C | NCBI36 |
| NG_015826.1:g.7658T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.403T>C | ||
| ENST00000468748.7:n.363T>C | ||
| ENST00000484154.2:n.1001T>C | ||
| ENST00000491008.6:n.1128T>C | ||
| ENST00000492226.2:n.377T>C | ||
| ENST00000492773.6:c.112T>C | ||
| ENST00000647636.1:c.380T>C | ENSP00000497505.1:p.Leu127Pro | |
| ENST00000647909.1:c.380T>C | ENSP00000498164.1:p.Leu127Pro | |
| ENST00000648145.1:c.148T>C | ||
| ENST00000648189.1:c.130T>C | ||
| ENST00000648256.1:c.329T>C | ENSP00000497356.1:p.Leu110Pro | |
| ENST00000648314.1:c.380T>C | ENSP00000496920.1:p.Leu127Pro | |
| ENST00000648599.1:c.380T>C | ENSP00000497159.1:p.Leu127Pro | |
| ENST00000648630.1:c.374T>C | ENSP00000497887.1:p.Leu125Pro | |
| ENST00000648682.1:c.380T>C | ENSP00000498185.1:p.Leu127Pro | |
| ENST00000648882.1:c.*206T>C | ENSP00000497603.1:n.*206T>C | |
| ENST00000648890.1:c.380T>C | ENSP00000497503.1:p.Leu127Pro | |
| ENST00000648915.2:c.380T>C MANE Select | ENSP00000497160.1:p.Leu127Pro | |
| ENST00000649545.1:c.114T>C | ||
| ENST00000649688.1:c.380T>C | ENSP00000497097.1:p.Leu127Pro | |
| ENST00000649814.1:n.429T>C | ||
| ENST00000650244.1:c.525T>C | ENSP00000497227.1:n.525T>C | |
| ENST00000650270.1:c.247T>C | ||
| ENST00000273783.7:c.380T>C | ENSP00000273783.3:p.Leu127Pro | |
| ENST00000432982.5:c.245+1004T>C | ||
| ENST00000444495.1:c.380T>C | ENSP00000409142.1:p.Leu127Pro | |
| ENST00000481054.5:n.381T>C | ||
| ENST00000491008.5:n.344T>C | ||
| ENST00000491144.5:n.728T>C | ||
| ENST00000498831.1:n.335T>C | ||
| NM_003907.2:c.380T>C | NP_003898.2:p.Leu127Pro | |
| XR_924208.1:n.1331T>C | ||
| NM_003907.3:c.380T>C MANE Select | NP_003898.2:p.Leu127Pro | |
| XM_011513266.3:c.-522T>C | XP_011511568.1:n.-522T>C | |
| XR_001740352.2:n.743T>C | ||
| XR_001740353.2:n.743T>C | ||
| XR_924208.2:n.743T>C |