Linked Data
ClinVar Variation Id:
878538
dbSNP Id:
rs751998841
ExAC:
11:17523056 C / T
gnomAD v2:
11-17523056-C-T
gnomAD v3:
11-17501509-C-T
gnomAD v4:
11-17501509-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17501509C>T , CM000673.2:g.17501509C>T | GRCh38 |
| NC_000011.9:g.17523056C>T , CM000673.1:g.17523056C>T | GRCh37 |
| NC_000011.8:g.17479632C>T | NCBI36 |
| NG_011883.1:g.47908G>A | |
| NG_011883.2:g.47908G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.2253G>A MANE Select | ENSP00000005226.7:p.Lys751= | |
| ENST00000318024.9:c.1353G>A MANE Plus Clinical | ENSP00000317018.4:p.Lys451= | |
| ENST00000005226.11:c.2253G>A | ENSP00000005226.7:p.Lys751= | |
| ENST00000318024.8:c.1353G>A | ENSP00000317018.4:p.Lys451= | |
| ENST00000526313.5:c.*67G>A | ENSP00000432236.1:n.*67G>A | |
| ENST00000527020.5:c.1296G>A | ENSP00000436934.1:p.Lys432= | |
| ENST00000527720.5:c.1260G>A | ENSP00000432944.1:p.Lys420= | |
| ENST00000529563.5:n.237G>A | ||
| ENST00000534556.1:n.138G>A | ||
| NM_001297764.1:c.1296G>A | NP_001284693.1:p.Lys432= | |
| NM_005709.3:c.1353G>A | NP_005700.2:p.Lys451= | |
| NM_153676.3:c.2253G>A | NP_710142.1:p.Lys751= | |
| NR_123738.1:n.1388G>A | ||
| XM_011519831.1:c.2277G>A | XP_011518133.1:p.Lys759= | |
| XM_011519832.1:c.1506G>A | XP_011518134.1:p.Lys502= | |
| XM_011519833.1:c.1403G>A | XP_011518135.1:p.Arg468Lys | |
| XR_930841.1:n.1724G>A | ||
| XR_930842.1:n.1665G>A | ||
| XM_011519832.3:c.1506G>A | XP_011518134.1:p.Lys502= | |
| XM_017017075.1:c.2253G>A | XP_016872564.1:p.Lys751= | |
| XR_001747717.2:n.1512G>A | ||
| NM_153676.4:c.2253G>A MANE Select | NP_710142.1:p.Lys751= | |
| NM_001297764.2:c.1296G>A | NP_001284693.1:p.Lys432= | |
| NM_005709.4:c.1353G>A MANE Plus Clinical | NP_005700.2:p.Lys451= | |
| NR_123738.2:n.1388G>A |