Linked Data
ClinVar Variation Id:
763794
ClinVar RCV Id:
RCV000942072
dbSNP Id:
rs139996942
ExAC:
11:17531057 C / T
gnomAD v2:
11-17531057-C-T
gnomAD v3:
11-17509510-C-T
gnomAD v4:
11-17509510-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17509510C>T , CM000673.2:g.17509510C>T | GRCh38 |
| NC_000011.9:g.17531057C>T , CM000673.1:g.17531057C>T | GRCh37 |
| NC_000011.8:g.17487633C>T | NCBI36 |
| NG_011883.1:g.39907G>A | |
| NG_011883.2:g.39907G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.1859G>A MANE Select | ENSP00000005226.7:p.Arg620His | |
| ENST00000318024.9:c.1285-7530G>A MANE Plus Clinical | ENSP00000317018.4:n.1285-7530G>A | |
| ENST00000005226.11:c.1859G>A | ENSP00000005226.7:p.Arg620His | |
| ENST00000318024.8:c.1285-7530G>A | ENSP00000317018.4:n.1285-7530G>A | |
| ENST00000526313.5:c.1211-7530G>A | ENSP00000432236.1:n.1211-7530G>A | |
| ENST00000527020.5:c.1228-7530G>A | ENSP00000436934.1:n.1228-7530G>A | |
| ENST00000527720.5:c.1192-7530G>A | ENSP00000432944.1:n.1192-7530G>A | |
| ENST00000529563.5:n.168+6945G>A | ||
| NM_001297764.1:c.1228-7530G>A | NP_001284693.1:n.1228-7530G>A | |
| NM_005709.3:c.1285-7530G>A | NP_005700.2:n.1285-7530G>A | |
| NM_153676.3:c.1859G>A | NP_710142.1:p.Arg620His | |
| NR_123738.1:n.1320-7530G>A | ||
| XM_011519831.1:c.1883G>A | XP_011518133.1:p.Arg628His | |
| XM_011519832.1:c.1437+2392G>A | XP_011518134.1:n.1437+2392G>A | |
| XM_011519833.1:c.1334+6731G>A | XP_011518135.1:n.1334+6731G>A | |
| XR_930841.1:n.1655+2392G>A | ||
| XR_930842.1:n.1596+2392G>A | ||
| XM_011519832.3:c.1437+2392G>A | XP_011518134.1:n.1437+2392G>A | |
| XM_017017072.1:c.1883G>A | XP_016872561.1:p.Arg628His | |
| XM_017017073.1:c.1826G>A | XP_016872562.1:p.Arg609His | |
| XM_017017074.1:c.1555-281G>A | XP_016872563.1:n.1555-281G>A | |
| XM_017017075.1:c.1859G>A | XP_016872564.1:p.Arg620His | |
| XR_001747717.2:n.1443+6731G>A | ||
| NM_153676.4:c.1859G>A MANE Select | NP_710142.1:p.Arg620His | |
| NM_001297764.2:c.1228-7530G>A | NP_001284693.1:n.1228-7530G>A | |
| NM_005709.4:c.1285-7530G>A MANE Plus Clinical | NP_005700.2:n.1285-7530G>A | |
| NR_123738.2:n.1320-7530G>A |