Linked Data
ClinVar Variation Id:
31189
ClinVar RCV Id:
RCV000024188
dbSNP Id:
rs387907133
ExAC:
11:61136072 C / T
gnomAD v2:
11-61136072-C-T
gnomAD v4:
11-61368600-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61368600C>T , CM000673.2:g.61368600C>T | GRCh38 |
| NC_000011.9:g.61136072C>T , CM000673.1:g.61136072C>T | GRCh37 |
| NC_000011.8:g.60892648C>T | NCBI36 |
| NG_032581.1:g.11600C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451389.7:c.376+602C>T | ENSP00000508581.1:n.376+602C>T | |
| ENST00000507563.7:c.*725C>T | ENSP00000510363.1:n.*725C>T | |
| ENST00000542946.2:c.*2366C>T | ENSP00000445792.1:n.*2366C>T | |
| ENST00000543594.6:c.*591C>T | ENSP00000509354.1:n.*591C>T | |
| ENST00000685597.1:c.*143C>T | ENSP00000509403.1:n.*143C>T | |
| ENST00000686820.1:c.*127C>T | ENSP00000508587.1:n.*127C>T | |
| ENST00000688279.1:c.*127C>T | ENSP00000510422.1:n.*127C>T | |
| ENST00000688430.1:n.306C>T | ||
| ENST00000689076.1:c.*1768C>T | ENSP00000508469.1:n.*1768C>T | |
| ENST00000689882.1:c.*2431C>T | ENSP00000509351.1:n.*2431C>T | |
| ENST00000691720.1:c.376+602C>T | ENSP00000509146.1:n.376+602C>T | |
| ENST00000692219.1:c.380C>T | ENSP00000510149.1:p.Ala127Val | |
| ENST00000692667.1:c.*143C>T | ENSP00000510180.1:n.*143C>T | |
| ENST00000692785.1:c.*444C>T | ENSP00000509310.1:n.*444C>T | |
| ENST00000693557.1:c.*431C>T | ENSP00000508970.1:n.*431C>T | |
| ENST00000278826.11:c.380C>T MANE Select | ENSP00000278826.5:p.Ala127Val | |
| ENST00000278826.10:c.380C>T | ENSP00000278826.5:p.Ala127Val | |
| ENST00000381787.2:c.206C>T | ENSP00000371206.2:p.Ala69Val | |
| ENST00000423772.6:n.1899C>T | ||
| ENST00000539776.1:n.1024C>T | ||
| ENST00000543833.1:n.95-172C>T | ||
| ENST00000545420.1:n.404C>T | ||
| NM_016464.4:c.380C>T | NP_057548.1:p.Ala127Val | |
| NR_028473.1:n.822C>T | ||
| XM_006718586.1:c.377C>T | XP_006718649.1:p.Ala126Val | |
| XM_006718588.2:c.206C>T | XP_006718651.1:p.Ala69Val | |
| XM_011545098.1:c.376+602C>T | XP_011543400.1:n.376+602C>T | |
| XM_011545099.1:c.376+602C>T | XP_011543401.1:n.376+602C>T | |
| XM_011545100.1:c.376+602C>T | XP_011543402.1:n.376+602C>T | |
| XR_949964.1:n.1074C>T | ||
| XR_949965.1:n.1070+602C>T | ||
| XR_949966.1:n.1070+602C>T | ||
| NM_001330281.1:c.206C>T | NP_001317210.1:p.Ala69Val | |
| XM_006718585.3:c.*444C>T | XP_006718648.1:n.*444C>T | |
| XM_006718586.2:c.377C>T | XP_006718649.1:p.Ala126Val | |
| XM_011545098.2:c.376+602C>T | XP_011543400.1:n.376+602C>T | |
| XM_011545099.2:c.376+602C>T | XP_011543401.1:n.376+602C>T | |
| XM_017017917.1:c.300+2384C>T | XP_016873406.1:n.300+2384C>T | |
| XR_949964.3:n.1074C>T | ||
| XR_949966.2:n.1070+602C>T | ||
| NM_016464.5:c.380C>T MANE Select | NP_057548.1:p.Ala127Val | |
| NM_001330281.2:c.206C>T | NP_001317210.1:p.Ala69Val | |
| NR_028473.2:n.449C>T |