Linked Data
ClinVar Variation Id:
353316
dbSNP Id:
rs201765665
ExAC:
5:36677251 C / T
gnomAD v2:
5-36677251-C-T
gnomAD v3:
5-36677149-C-T
gnomAD v4:
5-36677149-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36677149C>T , CM000667.2:g.36677149C>T | GRCh38 |
| NC_000005.9:g.36677251C>T , CM000667.1:g.36677251C>T | GRCh37 |
| NC_000005.8:g.36713008C>T | NCBI36 |
| NG_015890.1:g.75795C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265113.9:c.825C>T MANE Select | ENSP00000265113.4:p.Asn275= | |
| ENST00000381918.4:c.825C>T | ENSP00000371343.4:p.Asn275= | |
| ENST00000612708.5:c.525-2478C>T | ENSP00000483657.1:n.525-2478C>T | |
| ENST00000613445.5:c.687C>T | ENSP00000477672.1:p.Asn229= | |
| ENST00000624112.2:n.3818C>T | ||
| ENST00000679487.1:c.44-2606C>T | ||
| ENST00000679784.1:c.*737C>T | ENSP00000506030.1:n.*737C>T | |
| ENST00000679958.1:c.320-8916C>T | ENSP00000505246.1:n.320-8916C>T | |
| ENST00000679983.1:c.825C>T | ENSP00000505238.1:p.Asn275= | |
| ENST00000679992.1:c.825C>T | ENSP00000506585.1:p.Asn275= | |
| ENST00000680048.1:c.*1318C>T | ENSP00000505296.1:n.*1318C>T | |
| ENST00000680064.1:n.1191C>T | ||
| ENST00000680125.1:c.825C>T | ENSP00000506424.1:p.Asn275= | |
| ENST00000680232.1:c.825C>T | ENSP00000506207.1:p.Asn275= | |
| ENST00000680318.1:c.825C>T | ENSP00000505057.1:p.Asn275= | |
| ENST00000680655.1:c.*537C>T | ENSP00000506436.1:n.*537C>T | |
| ENST00000680835.1:c.44-2478C>T | ||
| ENST00000680876.1:n.4006C>T | ||
| ENST00000680878.1:n.4006C>T | ||
| ENST00000680890.1:c.258C>T | ENSP00000505580.1:p.Asn86= | |
| ENST00000681440.1:c.43+3058C>T | ||
| ENST00000681480.1:c.258C>T | ENSP00000506380.1:p.Asn86= | |
| ENST00000681633.1:n.1191C>T | ||
| ENST00000681701.1:c.463C>T | ||
| ENST00000681814.1:n.940C>T | ||
| ENST00000681854.1:c.258C>T | ENSP00000504899.1:p.Asn86= | |
| ENST00000681909.1:c.687C>T | ENSP00000506599.1:p.Asn229= | |
| ENST00000681926.1:c.825C>T | ENSP00000505850.1:p.Asn275= | |
| ENST00000265113.8:c.825C>T | ENSP00000265113.4:p.Asn275= | |
| ENST00000381918.3:c.825C>T | ENSP00000371343.3:p.Asn275= | |
| ENST00000612708.4:c.525-2478C>T | ENSP00000483657.1:n.525-2478C>T | |
| ENST00000613445.4:c.687C>T | ENSP00000477672.1:p.Asn229= | |
| NM_001166695.2:c.825C>T | NP_001160167.1:p.Asn275= | |
| NM_001289939.1:c.687C>T | NP_001276868.1:p.Asn229= | |
| NM_001289940.1:c.525-2478C>T | NP_001276869.1:n.525-2478C>T | |
| NM_004172.4:c.825C>T | NP_004163.3:p.Asn275= | |
| XM_005248342.1:c.825C>T | XP_005248399.1:p.Asn275= | |
| XM_011514084.1:c.504C>T | XP_011512386.1:p.Asn168= | |
| XM_005248342.3:c.825C>T | XP_005248399.1:p.Asn275= | |
| XM_011514084.2:c.504C>T | XP_011512386.1:p.Asn168= | |
| XM_024446181.1:c.825C>T | XP_024301949.1:p.Asn275= | |
| XM_024446182.1:c.825C>T | XP_024301950.1:p.Asn275= | |
| NM_004172.5:c.825C>T MANE Select | NP_004163.3:p.Asn275= | |
| NM_001166695.3:c.825C>T | NP_001160167.1:p.Asn275= | |
| NM_001289939.2:c.687C>T | NP_001276868.1:p.Asn229= | |
| NM_001289940.2:c.525-2478C>T | NP_001276869.1:n.525-2478C>T |