Linked Data
ClinVar Variation Id:
48009
dbSNP Id:
rs56165709
ExAC:
11:17517160 C / T
gnomAD v2:
11-17517160-C-T
gnomAD v3:
11-17495613-C-T
gnomAD v4:
11-17495613-C-T
PubMed:
PMID:11139240
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17495613C>T , CM000673.2:g.17495613C>T | GRCh38 |
| NC_000011.9:g.17517160C>T , CM000673.1:g.17517160C>T | GRCh37 |
| NC_000011.8:g.17473736C>T | NCBI36 |
| NG_011883.1:g.53804G>A | |
| NG_011883.2:g.53804G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.2611G>A MANE Select | ENSP00000005226.7:p.Ala871Thr | |
| ENST00000318024.9:c.1646+1145G>A MANE Plus Clinical | ENSP00000317018.4:n.1646+1145G>A | |
| ENST00000005226.11:c.2611G>A | ENSP00000005226.7:p.Ala871Thr | |
| ENST00000318024.8:c.1646+1145G>A | ENSP00000317018.4:n.1646+1145G>A | |
| ENST00000526313.5:c.*360+1145G>A | ENSP00000432236.1:n.*360+1145G>A | |
| ENST00000527020.5:c.1589+1145G>A | ENSP00000436934.1:n.1589+1145G>A | |
| ENST00000527551.1:n.156+1145G>A | ||
| ENST00000527720.5:c.1553+1145G>A | ENSP00000432944.1:n.1553+1145G>A | |
| ENST00000529563.5:n.530+1145G>A | ||
| NM_001297764.1:c.1589+1145G>A | NP_001284693.1:n.1589+1145G>A | |
| NM_005709.3:c.1646+1145G>A | NP_005700.2:n.1646+1145G>A | |
| NM_153676.3:c.2611G>A | NP_710142.1:p.Ala871Thr | |
| NR_123738.1:n.1681+1145G>A | ||
| XM_011519831.1:c.2570+1145G>A | XP_011518133.1:n.2570+1145G>A | |
| XM_011519832.1:c.1799+1145G>A | XP_011518134.1:n.1799+1145G>A | |
| XM_011519832.3:c.1799+1145G>A | XP_011518134.1:n.1799+1145G>A | |
| XM_017017075.1:c.2611G>A | XP_016872564.1:p.Ala871Thr | |
| XR_001747717.2:n.1805+1145G>A | ||
| NM_153676.4:c.2611G>A MANE Select | NP_710142.1:p.Ala871Thr | |
| NM_001297764.2:c.1589+1145G>A | NP_001284693.1:n.1589+1145G>A | |
| NM_005709.4:c.1646+1145G>A MANE Plus Clinical | NP_005700.2:n.1646+1145G>A | |
| NR_123738.2:n.1681+1145G>A |