Linked Data
ClinVar Variation Id:
764358
ClinVar RCV Id:
RCV000942692
dbSNP Id:
rs1388399222
gnomAD v2:
11-17530927-T-C
gnomAD v4:
11-17509380-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17509380T>C , CM000673.2:g.17509380T>C | GRCh38 |
| NC_000011.9:g.17530927T>C , CM000673.1:g.17530927T>C | GRCh37 |
| NC_000011.8:g.17487503T>C | NCBI36 |
| NG_011883.1:g.40037A>G | |
| NG_011883.2:g.40037A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.1989A>G MANE Select | ENSP00000005226.7:p.Glu663= | |
| ENST00000318024.9:c.1285-7400A>G MANE Plus Clinical | ENSP00000317018.4:n.1285-7400A>G | |
| ENST00000005226.11:c.1989A>G | ENSP00000005226.7:p.Glu663= | |
| ENST00000318024.8:c.1285-7400A>G | ENSP00000317018.4:n.1285-7400A>G | |
| ENST00000526313.5:c.1211-7400A>G | ENSP00000432236.1:n.1211-7400A>G | |
| ENST00000527020.5:c.1228-7400A>G | ENSP00000436934.1:n.1228-7400A>G | |
| ENST00000527720.5:c.1192-7400A>G | ENSP00000432944.1:n.1192-7400A>G | |
| ENST00000529563.5:n.168+7075A>G | ||
| NM_001297764.1:c.1228-7400A>G | NP_001284693.1:n.1228-7400A>G | |
| NM_005709.3:c.1285-7400A>G | NP_005700.2:n.1285-7400A>G | |
| NM_153676.3:c.1989A>G | NP_710142.1:p.Glu663= | |
| NR_123738.1:n.1320-7400A>G | ||
| XM_011519831.1:c.2013A>G | XP_011518133.1:p.Glu671= | |
| XM_011519832.1:c.1437+2522A>G | XP_011518134.1:n.1437+2522A>G | |
| XM_011519833.1:c.1334+6861A>G | XP_011518135.1:n.1334+6861A>G | |
| XR_930841.1:n.1655+2522A>G | ||
| XR_930842.1:n.1596+2522A>G | ||
| XM_011519832.3:c.1437+2522A>G | XP_011518134.1:n.1437+2522A>G | |
| XM_017017072.1:c.2013A>G | XP_016872561.1:p.Glu671= | |
| XM_017017073.1:c.1956A>G | XP_016872562.1:p.Glu652= | |
| XM_017017074.1:c.1555-151A>G | XP_016872563.1:n.1555-151A>G | |
| XM_017017075.1:c.1989A>G | XP_016872564.1:p.Glu663= | |
| XR_001747717.2:n.1443+6861A>G | ||
| NM_153676.4:c.1989A>G MANE Select | NP_710142.1:p.Glu663= | |
| NM_001297764.2:c.1228-7400A>G | NP_001284693.1:n.1228-7400A>G | |
| NM_005709.4:c.1285-7400A>G MANE Plus Clinical | NP_005700.2:n.1285-7400A>G | |
| NR_123738.2:n.1320-7400A>G |