Linked Data
ClinVar Variation Id:
3059116
ClinVar RCV Id:
RCV003979705
dbSNP Id:
rs1052576
ExAC:
1:15832543 T / C
gnomAD v2:
1-15832543-T-C
gnomAD v3:
1-15506048-T-C
gnomAD v4:
1-15506048-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15506048T>C , CM000663.2:g.15506048T>C | GRCh38 |
| NC_000001.10:g.15832543T>C , CM000663.1:g.15832543T>C | GRCh37 |
| NC_000001.9:g.15705130T>C | NCBI36 |
| NG_029188.1:g.23743A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333868.10:c.662A>G MANE Select | ENSP00000330237.5:p.Gln221Arg | |
| ENST00000333868.9:c.662A>G | ENSP00000330237.5:p.Gln221Arg | |
| ENST00000348549.9:c.419-10596A>G | ENSP00000255256.7:n.419-10596A>G | |
| ENST00000375890.8:c.413A>G | ENSP00000365051.4:p.Gln138Arg | |
| ENST00000400777.7:c.712A>G | ||
| ENST00000424908.5:c.186A>G | ||
| ENST00000440484.1:c.630+851A>G | ENSP00000411304.1:n.630+851A>G | |
| ENST00000447522.5:c.413A>G | ENSP00000396540.1:p.Gln138Arg | |
| ENST00000474305.2:c.522A>G | ENSP00000449216.1:n.522A>G | |
| ENST00000546424.5:c.662A>G | ENSP00000449584.1:p.Gln221Arg | |
| NM_001229.4:c.662A>G | NP_001220.2:p.Gln221Arg | |
| NM_001278054.1:c.419-10596A>G | NP_001264983.1:n.419-10596A>G | |
| NM_032996.3:c.413A>G | NP_127463.2:p.Gln138Arg | |
| NR_102732.1:n.965A>G | ||
| NR_102733.1:n.767A>G | ||
| XM_005246014.2:c.413A>G | XP_005246071.1:p.Gln138Arg | |
| XM_011542270.1:c.662A>G | XP_011540572.1:p.Gln221Arg | |
| XM_011542271.1:c.413A>G | XP_011540573.1:p.Gln138Arg | |
| XM_011542272.1:c.413A>G | XP_011540574.1:p.Gln138Arg | |
| XM_011542273.1:c.662A>G | XP_011540575.1:p.Gln221Arg | |
| XR_946778.1:n.795+851A>G | ||
| XM_011542273.3:c.662A>G | XP_011540575.1:p.Gln221Arg | |
| NM_001229.5:c.662A>G MANE Select | NP_001220.2:p.Gln221Arg | |
| NM_001278054.2:c.419-10596A>G | NP_001264983.1:n.419-10596A>G | |
| NR_102732.2:n.735A>G | ||
| NR_102733.2:n.537A>G |