Linked Data
ClinVar Variation Id:
3121368
ClinVar RCV Id:
RCV004408226
dbSNP Id:
rs768659445
ExAC:
19:17394685 G / A
gnomAD v2:
19-17394685-G-A
gnomAD v3:
19-17283876-G-A
gnomAD v4:
19-17283876-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17283876G>A , CM000681.2:g.17283876G>A | GRCh38 |
| NC_000019.9:g.17394685G>A , CM000681.1:g.17394685G>A | GRCh37 |
| NC_000019.8:g.17255685G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404085.7:c.1112G>A MANE Select | ENSP00000384008.3:p.Arg371Gln | |
| ENST00000404261.9:c.1112G>A | ENSP00000384753.6:p.Arg371Gln | |
| ENST00000594072.6:c.1112G>A | ENSP00000468845.4:p.Arg371Gln | |
| ENST00000651416.1:n.1329G>A | ||
| ENST00000652132.1:c.1079G>A | ENSP00000498416.1:p.Arg360Gln | |
| ENST00000394458.7:c.1274G>A | ENSP00000377971.4:p.Arg425Gln | |
| ENST00000404085.5:c.*1011G>A | ENSP00000384008.2:n.*1011G>A | |
| ENST00000404261.8:c.1274G>A | ENSP00000384753.5:p.Arg425Gln | |
| ENST00000594072.5:c.1274G>A | ENSP00000468845.3:p.Arg425Gln | |
| ENST00000596626.1:n.1225G>A | ||
| ENST00000598347.2:c.1114G>A | ||
| NM_001278443.1:c.1241G>A | NP_001265372.1:p.Arg414Gln | |
| NM_001278444.1:c.1274G>A | NP_001265373.1:p.Arg425Gln | |
| NM_001278445.1:c.1178G>A | NP_001265374.1:p.Arg393Gln | |
| NM_152363.5:c.1274G>A | NP_689576.5:p.Arg425Gln | |
| NR_103530.1:n.1388G>A | ||
| NM_001278443.2:c.1079G>A | NP_001265372.2:p.Arg360Gln | |
| NM_001278444.2:c.1112G>A | NP_001265373.2:p.Arg371Gln | |
| NM_001278445.2:c.1070G>A | NP_001265374.2:p.Arg357Gln | |
| NM_152363.6:c.1112G>A MANE Select | NP_689576.6:p.Arg371Gln | |
| NR_103530.2:n.1132G>A |