Linked Data
ClinVar Variation Id:
387114
ClinVar RCV Id:
RCV001721316
dbSNP Id:
rs139724134
ExAC:
1:27120915 T / C
gnomAD v2:
1-27120915-T-C
gnomAD v3:
1-26794424-T-C
gnomAD v4:
1-26794424-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26794424T>C , CM000663.2:g.26794424T>C | GRCh38 |
| NC_000001.10:g.27120915T>C , CM000663.1:g.27120915T>C | GRCh37 |
| NC_000001.9:g.26993502T>C | NCBI36 |
| NG_028133.1:g.11462T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686194.1:c.172+218T>C | ENSP00000509240.1:n.172+218T>C | |
| ENST00000686325.1:c.390T>C | ENSP00000509836.1:p.Ala130= | |
| ENST00000686422.1:n.1300T>C | ||
| ENST00000686655.1:c.-36-3139T>C | ENSP00000510382.1:n.-36-3139T>C | |
| ENST00000687468.1:c.390T>C | ENSP00000510051.1:p.Ala130= | |
| ENST00000688522.1:c.390T>C | ENSP00000508665.1:p.Ala130= | |
| ENST00000688730.1:c.9T>C | ENSP00000508720.1:p.Ala3= | |
| ENST00000689130.1:c.9T>C | ENSP00000509671.1:p.Ala3= | |
| ENST00000691135.1:c.390T>C | ENSP00000510357.1:p.Ala130= | |
| ENST00000691454.1:c.390T>C | ENSP00000509275.1:p.Ala130= | |
| ENST00000693629.1:c.79-3139T>C | ENSP00000509280.1:n.79-3139T>C | |
| ENST00000078527.9:c.390T>C | ENSP00000078527.4:p.Ala130= | |
| ENST00000374145.6:c.390T>C | ENSP00000363260.1:p.Ala130= | |
| ENST00000431541.6:c.390T>C | ENSP00000388425.2:p.Ala130= | |
| ENST00000455364.2:c.390T>C | ENSP00000406080.2:p.Ala130= | |
| ENST00000674202.1:c.390T>C MANE Select | ENSP00000501479.1:p.Ala130= | |
| ENST00000674222.1:c.390T>C | ENSP00000501335.1:p.Ala130= | |
| ENST00000674273.1:c.390T>C | ENSP00000501527.1:p.Ala130= | |
| ENST00000674317.1:n.695T>C | ||
| ENST00000674335.1:c.9T>C | ENSP00000501446.1:p.Ala3= | |
| ENST00000078527.8:c.390T>C | ENSP00000078527.4:p.Ala130= | |
| ENST00000374145.5:c.390T>C | ENSP00000363260.1:p.Ala130= | |
| ENST00000455364.1:c.390T>C | ENSP00000406080.1:p.Ala130= | |
| ENST00000472757.5:c.172+218T>C | ENSP00000436884.1:n.172+218T>C | |
| NM_001202554.1:c.390T>C | NP_001189483.1:p.Ala130= | |
| NM_017837.3:c.390T>C | NP_060307.2:p.Ala130= | |
| NM_001202554.2:c.390T>C | NP_001189483.1:p.Ala130= | |
| NM_001374478.1:c.390T>C | NP_001361407.1:p.Ala130= | |
| NM_001374480.1:c.390T>C | NP_001361409.1:p.Ala130= | |
| NM_001374481.1:c.390T>C | NP_001361410.1:p.Ala130= | |
| NM_001374482.1:c.390T>C | NP_001361411.1:p.Ala130= | |
| NM_001374483.1:c.9T>C | NP_001361412.1:p.Ala3= | |
| NM_001374484.1:c.172+218T>C | NP_001361413.1:n.172+218T>C | |
| NM_001374485.1:c.172+218T>C | NP_001361414.1:n.172+218T>C | |
| NM_001374486.1:c.79-3139T>C | NP_001361415.1:n.79-3139T>C | |
| NM_017837.4:c.390T>C MANE Select | NP_060307.2:p.Ala130= | |
| NR_164651.1:n.888T>C | ||
| NR_164652.1:n.615+151T>C |