Linked Data
ClinVar Variation Id:
179845
dbSNP Id:
rs199532754
ExAC:
11:17527398 T / C
gnomAD v2:
11-17527398-T-C
gnomAD v3:
11-17505851-T-C
gnomAD v4:
11-17505851-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17505851T>C , CM000673.2:g.17505851T>C | GRCh38 |
| NC_000011.9:g.17527398T>C , CM000673.1:g.17527398T>C | GRCh37 |
| NC_000011.8:g.17483974T>C | NCBI36 |
| NG_011883.1:g.43566A>G | |
| NG_011883.2:g.43566A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.2112A>G MANE Select | ENSP00000005226.7:p.Pro704= | |
| ENST00000318024.9:c.1285-3871A>G MANE Plus Clinical | ENSP00000317018.4:n.1285-3871A>G | |
| ENST00000005226.11:c.2112A>G | ENSP00000005226.7:p.Pro704= | |
| ENST00000318024.8:c.1285-3871A>G | ENSP00000317018.4:n.1285-3871A>G | |
| ENST00000526313.5:c.1211-3871A>G | ENSP00000432236.1:n.1211-3871A>G | |
| ENST00000527020.5:c.1228-3871A>G | ENSP00000436934.1:n.1228-3871A>G | |
| ENST00000527720.5:c.1192-3871A>G | ENSP00000432944.1:n.1192-3871A>G | |
| ENST00000529563.5:n.169-3871A>G | ||
| NM_001297764.1:c.1228-3871A>G | NP_001284693.1:n.1228-3871A>G | |
| NM_005709.3:c.1285-3871A>G | NP_005700.2:n.1285-3871A>G | |
| NM_153676.3:c.2112A>G | NP_710142.1:p.Pro704= | |
| NR_123738.1:n.1320-3871A>G | ||
| XM_011519831.1:c.2136A>G | XP_011518133.1:p.Pro712= | |
| XM_011519832.1:c.1438-3871A>G | XP_011518134.1:n.1438-3871A>G | |
| XM_011519833.1:c.1335-3871A>G | XP_011518135.1:n.1335-3871A>G | |
| XR_930841.1:n.1656-3871A>G | ||
| XR_930842.1:n.1597-3871A>G | ||
| XM_011519832.3:c.1438-3871A>G | XP_011518134.1:n.1438-3871A>G | |
| XM_017017072.1:c.*3271A>G | XP_016872561.1:n.*3271A>G | |
| XM_017017073.1:c.*3271A>G | XP_016872562.1:n.*3271A>G | |
| XM_017017074.1:c.*3271A>G | XP_016872563.1:n.*3271A>G | |
| XM_017017075.1:c.2112A>G | XP_016872564.1:p.Pro704= | |
| XR_001747717.2:n.1444-3871A>G | ||
| NM_153676.4:c.2112A>G MANE Select | NP_710142.1:p.Pro704= | |
| NM_001297764.2:c.1228-3871A>G | NP_001284693.1:n.1228-3871A>G | |
| NM_005709.4:c.1285-3871A>G MANE Plus Clinical | NP_005700.2:n.1285-3871A>G | |
| NR_123738.2:n.1320-3871A>G |