Linked Data
ClinVar Variation Id:
813359
dbSNP Id:
rs113994080
gnomAD v2:
3-183860062-C-T
gnomAD v4:
3-184142274-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184142274C>T , CM000665.2:g.184142274C>T | GRCh38 |
| NC_000003.11:g.183860062C>T , CM000665.1:g.183860062C>T | GRCh37 |
| NC_000003.10:g.185342756C>T | NCBI36 |
| NG_015826.1:g.12253C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465218.3:n.1363C>T | ||
| ENST00000468748.7:n.1583C>T | ||
| ENST00000484154.2:n.1570C>T | ||
| ENST00000491008.6:n.2088C>T | ||
| ENST00000492226.2:n.1607C>T | ||
| ENST00000492773.6:c.1094C>T | ||
| ENST00000647636.1:c.*189C>T | ENSP00000497505.1:n.*189C>T | |
| ENST00000647909.1:c.1364C>T | ENSP00000498164.1:p.Ser455Leu | |
| ENST00000648145.1:c.1112C>T | ||
| ENST00000648189.1:c.1158C>T | ||
| ENST00000648256.1:c.1312C>T | ENSP00000497356.1:n.1312C>T | |
| ENST00000648314.1:c.*459C>T | ENSP00000496920.1:n.*459C>T | |
| ENST00000648599.1:c.*623C>T | ENSP00000497159.1:n.*623C>T | |
| ENST00000648630.1:c.1219C>T | ENSP00000497887.1:n.1219C>T | |
| ENST00000648682.1:c.*180C>T | ENSP00000498185.1:n.*180C>T | |
| ENST00000648882.1:c.*1166C>T | ENSP00000497603.1:n.*1166C>T | |
| ENST00000648890.1:c.1340C>T | ENSP00000497503.1:p.Ser447Leu | |
| ENST00000648915.2:c.1340C>T MANE Select | ENSP00000497160.1:p.Ser447Leu | |
| ENST00000649545.1:c.724-24C>T | ||
| ENST00000649688.1:c.*633C>T | ENSP00000497097.1:n.*633C>T | |
| ENST00000649814.1:n.1389C>T | ||
| ENST00000650270.1:c.1207C>T | ||
| ENST00000273783.7:c.1340C>T | ENSP00000273783.3:p.Ser447Leu | |
| ENST00000432982.5:c.283C>T | ||
| ENST00000444495.1:c.1340C>T | ENSP00000409142.1:p.Ser447Leu | |
| ENST00000479250.1:n.167C>T | ||
| ENST00000481054.5:n.1434C>T | ||
| ENST00000491144.5:n.1844C>T | ||
| ENST00000492773.5:n.223C>T | ||
| NM_003907.2:c.1340C>T | NP_003898.2:p.Ser447Leu | |
| XM_011513265.1:c.590C>T | XP_011511567.1:p.Ser197Leu | |
| XM_011513266.1:c.503C>T | XP_011511568.1:p.Ser168Leu | |
| XR_924208.1:n.2291C>T | ||
| NM_003907.3:c.1340C>T MANE Select | NP_003898.2:p.Ser447Leu | |
| XM_011513266.3:c.503C>T | XP_011511568.1:p.Ser168Leu | |
| XR_001740352.2:n.1703C>T | ||
| XR_001740353.2:n.1703C>T | ||
| XR_924208.2:n.1703C>T |