Linked Data
ClinVar Variation Id:
2201309
ClinVar RCV Id:
RCV002629593
dbSNP Id:
rs775939939
ExAC:
9:123725020 C / T
gnomAD v2:
9-123725020-C-T
gnomAD v3:
9-120962742-C-T
gnomAD v4:
9-120962742-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120962742C>T , CM000671.2:g.120962742C>T | GRCh38 |
| NC_000009.11:g.123725020C>T , CM000671.1:g.123725020C>T | GRCh37 |
| NC_000009.10:g.122764841C>T | NCBI36 |
| NG_007364.1:g.92535G>A , LRG_28:g.92535G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.1467G>A | ||
| ENST00000696279.1:c.4753G>A | ||
| ENST00000696280.1:n.4522G>A | ||
| ENST00000696281.1:c.4451G>A | ENSP00000512521.1:p.Arg1484Gln | |
| ENST00000697921.1:n.3311G>A | ||
| ENST00000697922.1:c.*4423G>A | ENSP00000513478.1:n.*4423G>A | |
| ENST00000697923.1:n.4878G>A | ||
| ENST00000223642.3:c.4433G>A MANE Select | ENSP00000223642.1:p.Arg1478Gln | |
| ENST00000223642.2:c.4433G>A | ENSP00000223642.1:p.Arg1478Gln | |
| NM_001735.2:c.4433G>A , LRG_28t1:c.4433G>A | NP_001726.2:p.Arg1478Gln | |
| XM_011518980.1:c.4448G>A | XP_011517282.1:p.Arg1483Gln | |
| NM_001317163.1:c.4451G>A | NP_001304092.1:p.Arg1484Gln | |
| NM_001317163.2:c.4451G>A | NP_001304092.1:p.Arg1484Gln | |
| NM_001735.3:c.4433G>A MANE Select | NP_001726.2:p.Arg1478Gln |